Chemical: Drug
methotrexate

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.


1. FDA Label for methotrexate

Full label available at DailyMed

Genes and/or phenotypes found in this label


PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the page.

Clinical Annotation for rs1801133 (MTHFR), methotrexate, Arthritis, Juvenile Rheumatoid, Arthritis, Psoriatic, Arthritis, Rheumatoid and Drug Toxicity (level 3 Efficacy, Toxicity/ADR)

Level of Evidence
Level 3
Type
Efficacy, Toxicity/ADR
Variant
rs1801133
Genes
MTHFR
Phenotypes
Arthritis, Juvenile Rheumatoid, Arthritis, Psoriatic, Arthritis, Rheumatoid, Drug Toxicity
OMB Race
Mixed Population
Race Notes
White pediatric group, Asian group, and an unknown group, several mixed populations, Black or African American, White.

To see the rest of this clinical annotation please register or sign in.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for methotrexate

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA SLCO1B1 *1A N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *1B N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *5 N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *14 N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *15 N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *23 N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *31 N/A N/A N/A
No VIP available No VIP available VA SLCO1B1 *35 N/A N/A N/A
No VIP available No VIP available VA TPMT *1 N/A N/A N/A
No VIP available No VIP available VA TPMT *2 N/A N/A N/A
No VIP available No VIP available VA TPMT *3A N/A N/A N/A
No VIP available No VIP available VA TPMT *3B N/A N/A N/A
No VIP available No VIP available VA TPMT *3C N/A N/A N/A
No VIP available No VIP available VA TPMT *12 N/A N/A N/A
rs10035440 NC_000005.10:g.31539356T>C, NC_000005.9:g.31539463T>C, NM_018356.2:c.807+667T>C, NR_134298.1:n.710+667T>C, XM_005248319.1:c.12+667T>C, XM_005248319.2:c.12+667T>C, XM_006714479.1:c.555+667T>C, XM_006714480.2:c.12+667T>C, XM_011514062.1:c.900+667T>C, XR_241704.1:n.934+667T>C, rs13155198, rs56434987, rs58924525, rs59453111
T > C
SNP
rs10061133 NC_000005.10:g.55170716A>G, NC_000005.9:g.54466544A>G, NM_001145734.2:c.126+1872T>C, NM_001170402.1:c.126+1872T>C, NM_152623.2:c.126+1872T>C, NR_029960.1:n.-94T>C, NR_030387.1:n.27T>C, XM_005248450.1:c.126+1872T>C, XM_011543218.1:c.126+1872T>C
A > C
A > T
SNP
rs10072026 NC_000005.10:g.80649321T>C, NC_000005.9:g.79945140T>C, NG_023304.1:g.10661A>G, NM_000791.3:c.242+68A>G, NM_001290354.1:c.86+68A>G, NM_001290357.1:c.242+68A>G, NR_110936.1:n.684+68A>G, XM_005248455.1:c.131+68A>G, XM_005248456.1:c.86+68A>G, rs59805063
T > C
SNP
rs10106 NC_000009.11:g.130576075T>C, NC_000009.12:g.127813796T>C, NG_009551.1:g.45973A>G, NG_023245.1:g.15922T>C, NM_001018078.2:c.*192T>C, NM_001288803.1:c.*192T>C, NM_004957.5:c.*192T>C, NR_110170.1:n.2004T>C, XM_005251863.1:c.*192T>C, XM_005251864.1:c.1484-412T>C, XM_005251864.2:c.1484-412T>C, XM_005251865.1:c.*192T>C, XM_011518437.1:c.*192T>C, XM_011518438.1:c.*192T>C, XM_011518439.1:c.*192T>C, XR_242581.1:n.1834T>C, XR_242581.2:n.1853T>C, XR_242582.1:n.1362-412T>C, XR_242582.2:n.1381-412T>C, rs16930111, rs3181756
T > -
T > C
SNP
rs1017860 NC_000018.10:g.79412206T>C, NC_000018.9:g.77172206T>C, NG_029226.1:g.21435T>C, NM_001278669.1:c.1226+705T>C, NM_001278670.1:c.1226+705T>C, NM_001278672.1:c.1187+705T>C, NM_001278673.1:c.-191+11727T>C, NM_001278675.1:c.1187+705T>C, NM_006162.4:c.1226+705T>C, NM_172387.2:c.1187+705T>C, NM_172388.2:c.-191+15855T>C, NM_172389.2:c.1187+705T>C, NM_172390.2:c.1226+705T>C, XM_005266701.1:c.1193+705T>C, XM_005266702.1:c.1226+705T>C, rs59239647
T > C
SNP
rs10197559 NC_000002.11:g.216185825C>T, NC_000002.12:g.215321102C>T, NG_013002.1:g.14147C>T, NM_004044.6:c.290+1371C>T, rs13417729, rs59040650
C > T
SNP
rs10276036 NC_000007.13:g.87180198C>T, NC_000007.14:g.87550882C>T, NG_011513.1:g.167367G>A, NM_000927.4:c.1000-44G>A, rs10488634, rs111193439, rs17276942, rs57688958, rs58206924
C > A
C > T
SNP
rs10280623 NC_000007.13:g.87202544T>C, NC_000007.14:g.87573228T>C, NG_011513.1:g.145021A>G, NM_000927.4:c.287-3005A>G, rs56464124
T > C
SNP
rs1045642 NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664
A > G
SNP
I1145I
rs10505168 NC_000008.10:g.113655752T>C, NC_000008.11:g.112643523T>C, NM_052900.2:c.2998+1586A>G, NM_198123.1:c.3310+1586A>G, NM_198124.1:c.3190+1586A>G, NR_031745.1:n.31T>C, XM_005250771.1:c.3190+1586A>G, XM_011516808.1:c.3112+1586A>G, XM_011516809.1:c.2872+1586A>G, XM_011516810.1:c.2800+1586A>G, XM_011516811.1:c.1414+1586A>G, XM_011516812.1:c.3190+1586A>G, XM_011516813.1:c.586+1586A>G, XM_011516814.1:c.3190+1586A>G, XM_011516816.1:c.2998+1586A>G, rs60368931
T > A
T > G
SNP
rs1051266 NC_000021.8:g.46957794T>C, NC_000021.9:g.45537880T>C, NG_028278.1:g.9592A>G, NM_001205206.1:c.80A>G, NM_194255.2:c.80A>G, NP_001192135.1:p.His27Arg, NP_919231.1:p.His27Arg, XM_005261163.1:c.80A>G, XM_005261164.1:c.-279A>G, XM_005261164.2:c.-279A>G, XM_011529696.1:c.371A>G, XM_011529697.1:c.371A>G, XM_011529698.1:c.146A>G, XM_011529699.1:c.-1639A>G, XM_011529700.1:c.80A>G, XM_011529701.1:c.80A>G, XM_011529702.1:c.80A>G, XM_011529703.1:c.80A>G, XM_011529704.1:c.80A>G, XM_011529705.1:c.371A>G, XM_011529707.1:c.371A>G, XM_011529708.1:c.80A>G, XM_011529709.1:c.-279A>G, XM_011529710.1:c.-165-5732A>G, XP_005261220.1:p.His27Arg, XP_011527998.1:p.His124Arg, XP_011527999.1:p.His124Arg, XP_011528000.1:p.His49Arg, XP_011528002.1:p.His27Arg, XP_011528003.1:p.His27Arg, XP_011528004.1:p.His27Arg, XP_011528005.1:p.His27Arg, XP_011528006.1:p.His27Arg, XP_011528007.1:p.His124Arg, XP_011528009.1:p.His124Arg, XP_011528010.1:p.His27Arg, rs17844977, rs17857726, rs3171496, rs386514057, rs61510559
T > C
SNP
H27R
rs1053129 NC_000005.10:g.80626901C>A, NC_000005.9:g.79922720C>A, NG_023304.1:g.33081G>T, NM_000791.3:c.*2186G>T, NM_001290354.1:c.*2186G>T, NM_001290357.1:c.*2244G>T, NR_110936.1:n.3065G>T, XM_005248455.1:c.*2186G>T, XM_005248456.1:c.*2186G>T, rs11550956, rs1643629, rs16877939, rs3175968, rs374534748, rs3991272
C > -
C > A
SNP
rs1054774 NC_000009.11:g.130554998T>A, NC_000009.12:g.127792719T>A, NG_033942.1:g.11694T>A, rs3195291, rs58852618
T > A
SNP
rs1059150 NC_000020.10:g.57605439T>G, NC_000020.11:g.59030384T>G, NG_031871.1:g.6984A>C, NM_006886.3:c.78A>C, NP_008817.1:p.Ala26=, NR_037929.1:n.782A>C, NR_037930.1:n.523A>C, rs3199795
T > -
T > G
SNP
A26A
rs10760502 NC_000009.11:g.130565267A>G, NC_000009.12:g.127802988A>G, NG_023245.1:g.5114A>G, NM_001018078.2:c.-429A>G, NM_001288803.1:c.64A>G, NM_004957.5:c.64A>G, NP_001275732.1:p.Ile22Val, NP_004948.4:p.Ile22Val, NR_110170.1:n.131A>G, XM_005251863.1:c.64A>G, XM_005251864.1:c.64A>G, XM_005251864.2:c.64A>G, XM_005251865.1:c.-1659A>G, XM_011518437.1:c.-570A>G, XM_011518438.1:c.-181A>G, XP_005251920.1:p.Ile22Val, XP_005251921.1:p.Ile22Val, XR_242581.1:n.90A>G, XR_242581.2:n.109A>G, XR_242582.1:n.90A>G, XR_242582.2:n.109A>G, rs17855899, rs56845445
A > -
A > G
SNP
I22V
rs10821936 NC_000010.10:g.63723577C>T, NC_000010.11:g.61963818C>T, NG_030027.1:g.67565C>T, NM_032199.2:c.502+23410C>T, XM_005270215.1:c.247+23410C>T, XM_011540262.1:c.502+23410C>T, rs57005548, rs58668073
C > T
SNP
rs10868138 NC_000009.11:g.86917301T>C, NC_000009.12:g.84302386T>C, NM_001199633.1:c.338A>G, NM_022127.2:c.338A>G, NP_001186562.1:p.Tyr113Cys, NP_071410.1:p.Tyr113Cys, NR_037638.2:n.660A>G, XM_011518905.1:c.422A>G, XM_011518906.1:c.422A>G, XM_011518907.1:c.89A>G, XM_011518909.1:c.422A>G, XM_011518910.1:c.422A>G, XP_011517207.1:p.Tyr141Cys, XP_011517208.1:p.Tyr141Cys, XP_011517209.1:p.Tyr30Cys, XP_011517211.1:p.Tyr141Cys, XP_011517212.1:p.Tyr141Cys, XR_929832.1:n.549A>G, rs52792697, rs56686947
T > -
T > C
SNP
Y113C
rs10994982 NC_000010.10:g.63710104A>G, NC_000010.11:g.61950345A>G, NG_030027.1:g.54092A>G, NM_032199.2:c.502+9937A>G, XM_005270215.1:c.247+9937A>G, XM_011540262.1:c.502+9937A>G, rs60395283
A > G
SNP
rs11045821 NC_000012.11:g.21332423G>A, NC_000012.12:g.21179489G>A, NG_011745.1:g.53296G>A, NM_006446.4:c.727+469G>A, rs17389758
G > A
SNP
rs11045872 NC_000012.11:g.21372344A>G, NC_000012.12:g.21219410A>G, NG_011745.1:g.93217A>G, NM_006446.4:c.1682+2107A>G, rs56493741, rs57270127, rs58461013
A > G
SNP
rs11045879 NC_000012.11:g.21382619T>C, NC_000012.12:g.21229685T>C, NG_011745.1:g.103492T>C, NM_006446.4:c.1865+4846T>C, rs60471795
T > C
SNP
rs1105525 NC_000005.10:g.80654689C>T, NC_000005.9:g.79950508C>T, NG_016607.1:g.5215C>T, NG_023304.1:g.5293G>A, NM_000791.3:c.-200G>A, NM_001290354.1:c.-306G>A, NM_001290357.1:c.-200G>A, NM_002439.4:c.-39C>T, NR_110936.1:n.293G>A, XM_005248455.1:c.-657G>A, XM_005248456.1:c.-306G>A, rs4382147
C > -
C > A
C > T
SNP
rs11231809 NC_000011.10:g.64535478T>A, NC_000011.9:g.64302950T>A, rs60605965
T > A
SNP
rs1127354 NC_000020.10:g.3193842C>A, NC_000020.11:g.3213196C>A, NG_012093.1:g.8787C>A, NM_001267623.1:c.67-789C>A, NM_033453.3:c.94C>A, NM_181493.2:c.43C>A, NP_258412.1:p.Pro32Thr, NP_852470.1:p.Pro15Thr, NR_052000.1:n.194C>A, NR_052001.1:n.49-62C>A, NR_052002.1:n.286C>A, XM_006723564.2:c.94C>A, XM_006723565.2:c.67-789C>A, XM_011529234.1:c.94C>A, XM_011529235.1:c.94C>A, XP_006723627.1:p.Pro32Thr, XP_011527536.1:p.Pro32Thr, XP_011527537.1:p.Pro32Thr, rs111069069, rs11565932, rs117814751, rs16988347, rs3177087, rs3183216, rs41320251, rs52834049
C > A
SNP
P32T
rs1128503 NC_000007.13:g.87179601A>G, NC_000007.14:g.87550285A>G, NG_011513.1:g.167964T>C, NM_000927.4:c.1236T>C, NP_000918.2:p.Gly412=, rs116989428, rs17276907, rs2032587, rs2229105, rs28365046, rs386518005, rs58257317
A > G
SNP
G412G
rs1131596 NC_000021.8:g.46957916G>A, NC_000021.9:g.45538002G>A, NG_028278.1:g.9470C>T, NM_001205206.1:c.-43C>T, NM_194255.2:c.-43C>T, XM_005261163.1:c.-43C>T, XM_005261164.1:c.-401C>T, XM_005261164.2:c.-401C>T, XM_011529696.1:c.249C>T, XM_011529697.1:c.249C>T, XM_011529698.1:c.24C>T, XM_011529699.1:c.-1761C>T, XM_011529700.1:c.-43C>T, XM_011529701.1:c.-43C>T, XM_011529702.1:c.-43C>T, XM_011529703.1:c.-43C>T, XM_011529704.1:c.-43C>T, XM_011529705.1:c.249C>T, XM_011529707.1:c.249C>T, XM_011529708.1:c.-43C>T, XM_011529709.1:c.-401C>T, XM_011529710.1:c.-165-5854C>T, XP_011527998.1:p.Ser83=, XP_011527999.1:p.Ser83=, XP_011528000.1:p.Ser8=, XP_011528007.1:p.Ser83=, XP_011528009.1:p.Ser83=, rs117417996, rs3177999, rs3191633, rs36178135
G > A
SNP
rs1142345 NC_000006.11:g.18130918T>C, NC_000006.12:g.18130687T>C, NG_012137.2:g.29457A>G, NM_000367.3:c.719A>G, NP_000358.1:p.Tyr240Cys, XM_011514839.1:c.674A>G, XM_011514840.1:c.650A>G, XP_011513141.1:p.Tyr225Cys, XP_011513142.1:p.Tyr217Cys, rs16880254, rs1801205, rs29001646, rs52798150, rs61510596
T > C
SNP
Y240C
rs11545078 NC_000008.10:g.63938764G>A, NC_000008.11:g.63026205G>A, NG_028126.1:g.17847C>T, NM_003878.2:c.452C>T, NP_003869.1:p.Thr151Ile, XM_011517623.1:c.452C>T, XP_011515925.1:p.Thr151Ile, rs386518903, rs61629507
G > A
SNP
T151I
rs11702425 NC_000021.8:g.46908355T>C, NC_000021.9:g.45488441T>C, NG_011903.1:g.88259T>C, NM_030582.3:c.2460T>C, NM_130444.2:c.3165T>C, NM_130445.2:c.1920T>C, NM_130445.3:c.1920T>C, NP_085059.2:p.Leu820=, NP_569711.2:p.Leu1055=, NP_569712.2:p.Leu640=, XM_005261178.1:c.2460T>C, XM_005261179.1:c.2460T>C, XM_005261180.1:c.2361T>C, XM_005261181.1:c.1920T>C, XM_005261182.1:c.1896T>C, XP_005261235.1:p.Leu820=, XP_005261236.1:p.Leu820=, XP_005261237.1:p.Leu787=, XP_005261238.1:p.Leu640=, XP_005261239.1:p.Leu632=, rs60194184
T > C
SNP
L820L
rs117532069 NC_000020.10:g.53301068G>A, NC_000020.11:g.54684529G>A
G > A
SNP
rs11866002 NC_000016.10:g.58553833C>T, NC_000016.9:g.58587737C>T, NM_001265612.1:c.2904G>A, NM_016284.4:c.2919G>A, NM_206999.2:c.2919G>A, NP_001252541.1:p.Gln968=, NP_057368.3:p.Gln973=, NP_996882.1:p.Gln973=, NR_049763.1:n.3237G>A, XM_005255845.1:c.2919G>A, XM_005255846.1:c.2919G>A, XM_005255847.1:c.2916G>A, XM_005255848.1:c.2904G>A, XM_005255849.1:c.2916G>A, XM_005255850.1:c.2919G>A, XM_005255851.1:c.2919G>A, XP_005255902.1:p.Gln973=, XP_005255903.1:p.Gln973=, XP_005255904.1:p.Gln972=, XP_005255905.1:p.Gln968=, XP_005255906.1:p.Gln972=, XP_005255907.1:p.Gln973=, XP_005255908.1:p.Gln973=, XR_243400.1:n.3197G>A, rs59053850
C > -
C > T
SNP
Q968Q
rs1232027 NC_000005.10:g.80619201G>A, NC_000005.9:g.79915020G>A, NR_125754.1:n.117+3207C>T, rs1643642, rs56526453, rs61665333
G > A
SNP
rs12517451 NC_000005.10:g.80624254C>T, NC_000005.9:g.79920073C>T, NG_023304.1:g.35728G>A, NR_125754.1:n.-1730G>A, rs57318660
C > T
SNP
rs1264457 NC_000006.11:g.30458064G=, NC_000006.11:g.30458064G>A, NC_000006.12:g.30490287G=, NC_000006.12:g.30490287G>A, NM_005516.5:c.382G=, NM_005516.5:c.382G>A, NP_005507.3:p.Gly128=, NP_005507.3:p.Gly128Arg, NT_113891.2:g.1970128A=, NT_113891.2:g.1970128A>G, NT_113891.3:g.1970022A=, NT_113891.3:g.1970022A>G, NT_167245.1:g.1751704A=, NT_167245.1:g.1751704A>G, NT_167245.2:g.1746119A=, NT_167245.2:g.1746119A>G, NT_167246.1:g.1806142G=, NT_167246.1:g.1806142G>A, NT_167246.2:g.1800522G=, NT_167246.2:g.1800522G>A, NT_167247.1:g.1839928G=, NT_167247.1:g.1839928G>A, NT_167247.2:g.1834343G=, NT_167247.2:g.1834343G>A, NT_167248.1:g.1750979A=, NT_167248.1:g.1750979A>G, NT_167248.2:g.1745383A=, NT_167248.2:g.1745383A>G, NT_167249.1:g.1790354A=, NT_167249.1:g.1790354A>G, NT_167249.2:g.1791056A=, NT_167249.2:g.1791056A>G, rs115492845, rs117192178, rs17195355, rs7767992
G > A
SNP
G128R
rs12681874 NC_000008.10:g.63942342C>T, NC_000008.11:g.63029783C>T, NG_028126.1:g.14269G>A, NM_003878.2:c.275+384G>A, XM_011517623.1:c.275+384G>A, rs60682287
C > T
SNP
rs12894467 NC_000014.8:g.101507727C>T, NC_000014.9:g.101041390C>T, NR_030582.1:n.28C>T, NR_031575.1:n.-1587C>T, rs60410947
C > T
SNP
rs12995526 NC_000002.11:g.216197971T>C, NC_000002.12:g.215333248T>C, NG_013002.1:g.26293T>C, NM_004044.6:c.815-102T>C, rs17513754
T > C
SNP
rs13120400 NC_000004.11:g.89033527T>C, NC_000004.12:g.88112375T>C, NG_032067.2:g.123948A>G, NM_001257386.1:c.1194+928A>G, NM_004827.2:c.1194+928A>G, XM_005263354.1:c.1194+928A>G, XM_005263354.2:c.1194+928A>G, XM_005263355.1:c.1194+928A>G, XM_005263355.2:c.1194+928A>G, XM_005263356.1:c.1188+928A>G, XM_005263356.2:c.1188+928A>G, XM_011532420.1:c.1194+928A>G
T > C
SNP
rs13181 NC_000019.10:g.45351661T>G, NC_000019.9:g.45854919T>G, NG_007067.2:g.23927A>C, NM_000400.3:c.2251A>C, NM_177417.2:c.*304T>G, NP_000391.1:p.Lys751Gln, XM_005258536.1:c.*128T>G, XM_005258536.3:c.*128T>G, XM_005258537.1:c.*128T>G, XM_005258538.1:c.*304T>G, XM_005258539.1:c.*304T>G, XM_005258639.1:c.2179A>C, XM_005258640.1:c.2017A>C, XM_005258641.1:c.1513A>C, XM_011526611.1:c.2173A>C, XP_005258696.1:p.Lys727Gln, XP_005258697.1:p.Lys673Gln, XP_005258698.1:p.Lys505Gln, XP_011524913.1:p.Lys725Gln, rs1052559, rs17285142, rs17355147, rs17359310, rs3170171, rs3859422, rs60606175
T > G
SNP
K751Q
rs141059755 NC_000008.10:g.66107605A>C, NC_000008.10:g.66107605A>G, NC_000008.11:g.65195370A>C, NC_000008.11:g.65195370A>G
A > C
A > G
SNP
rs1476413 NC_000001.10:g.11852300C>T, NC_000001.11:g.11792243C>T, NG_013351.1:g.18861G>A, NM_005957.4:c.1632+35G>A, XM_005263458.1:c.1755+35G>A, XM_005263458.2:c.1755+35G>A, XM_005263459.1:c.1701+35G>A, XM_005263460.1:c.1632+35G>A, XM_005263460.3:c.1632+35G>A, XM_005263461.1:c.1632+35G>A, XM_005263461.3:c.1632+35G>A, XM_005263462.1:c.1632+35G>A, XM_005263462.3:c.1632+35G>A, XM_005263463.1:c.1386+35G>A, XM_005263463.2:c.1386+35G>A, XM_011541495.1:c.1752+35G>A, XM_011541496.1:c.1755+35G>A, rs17367345, rs386533606, rs58018465
C > T
SNP
rs151264360 NC_000018.10:g.673444_673449delTTAAAG, NC_000018.9:g.673444_673449delTTAAAG, NG_028255.1:g.20841_20846delTTAAAG, NM_001071.2:c.*447_*452delTTAAAG, NM_001126123.3:c.*145-373_*145-368del, NM_001126123.3:c.*145-373_*145-368delCTTTAA, NM_001318759.1:c.*145-373_*145-368del, NM_001318759.1:c.*145-373_*145-368delCTTTAA, NM_001318760.1:c.*446+410_*446+415delCTTTAA, NM_001318760.1:c.*856_*861del, NM_017512.5:c.*856_*861delCTTTAA, NM_202758.3:c.*856_*861delCTTTAA, XM_005258111.1:c.*856_*861delCTTTAA, XM_005258112.1:c.*856_*861delCTTTAA, XM_005258113.1:c.*856_*861delCTTTAA, XM_005258114.1:c.*856_*861delCTTTAA, XM_005258115.1:c.*856_*861delCTTTAA, XM_005258116.1:c.*856_*861delCTTTAA, XM_005258117.1:c.*856_*861delCTTTAA, XM_005258118.1:c.*856_*861delCTTTAA, XM_005258118.2:c.*856_*861del, XM_005258120.1:c.*856_*861delCTTTAA, XM_005258137.1:c.*447_*452delTTAAAG, XM_005258138.1:c.*447_*452delTTAAAG, XM_011525677.1:c.*856_*861del, XM_011525678.1:c.*856_*861del, XM_011525679.1:c.*856_*861del, XM_011525680.1:c.*856_*861del, XM_011525681.1:c.*856_*861del, XM_011525682.1:c.*856_*861del, XM_011525683.1:c.*856_*861del, XM_011525684.1:c.*856_*861del, XM_011525685.1:c.*856_*861del, XM_011525686.1:c.*856_*861del, XM_011525687.1:c.*856_*861del, XM_011525688.1:c.*856_*861del, XM_011525689.1:c.*856_*861del, XM_011525690.1:c.*856_*861del, XM_011525691.1:c.*856_*861del, XM_011525692.1:c.*856_*861del, XM_011525693.1:c.*856_*861del, XM_011525694.1:c.*856_*861del, XM_011525695.1:c.*856_*861del, XM_011525696.1:c.*856_*861del, XM_011525697.1:c.*856_*861del, XM_011525698.1:c.*856_*861del, XM_011525699.1:c.*856_*861del, XR_243810.1:n.1672-373_1672-368delCTTTAA, XR_243810.3:n.1513-373_1513-368del, XR_243811.1:n.1538-373_1538-368delCTTTAA, XR_243811.2:n.1538-373_1538-368del, XR_243812.1:n.2112_2117delCTTTAA, XR_430041.2:n.1633-373_1633-368del, XR_935066.1:n.2109_2114del, XR_935067.1:n.1967_1972del
TTAAAG > -
indel
rs1544105 NC_000009.11:g.130562725C>T, NC_000009.12:g.127800446C>T, NG_023245.1:g.2572C>T, rs56775301, rs60601426
C > T
SNP
rs1643650 NC_000005.10:g.80644324T>C, NC_000005.9:g.79940143T>C, NG_023304.1:g.15658A>G, NM_000791.3:c.242+5065A>G, NM_001290354.1:c.86+5065A>G, NM_001290357.1:c.242+5065A>G, NR_110936.1:n.684+5065A>G, XM_005248455.1:c.131+5065A>G, XM_005248456.1:c.86+5065A>G, rs59943495
T > C
SNP
rs1643657 NC_000005.10:g.80640598T>C, NC_000005.9:g.79936417T>C, NG_023304.1:g.19384A>G, NM_000791.3:c.243-2589A>G, NM_001290354.1:c.87-2589A>G, NM_001290357.1:c.243-2589A>G, NR_110936.1:n.685-6606A>G, XM_005248455.1:c.132-2589A>G, XM_005248456.1:c.87-2589A>G, rs11566743, rs386540277, rs59951426
T > C
SNP
rs1650723 NC_000005.10:g.80626211C>T, NC_000005.9:g.79922030C>T, NG_023304.1:g.33771G>A, NM_000791.3:c.*2876G>A, NM_001290354.1:c.*2876G>A, NM_001290357.1:c.*2934G>A, NR_110936.1:n.3755G>A, XM_005248455.1:c.*2876G>A, XM_005248456.1:c.*2876G>A, rs17790092, rs386540357
C > T
SNP
rs16853826 NC_000002.11:g.216205167G>A, NC_000002.12:g.215340444G>A, NG_013002.1:g.33489G>A, NM_004044.6:c.1227+1537G>A, rs60936288
G > A
SNP
rs16853834 NC_000002.11:g.216210236C>T, NC_000002.12:g.215345513C>T, NG_013002.1:g.38558C>T, NM_004044.6:c.1320+642C>T, rs58088616
C > T
SNP
rs1695 NC_000011.10:g.67585218A>G, NC_000011.9:g.67352689A>G, NG_012075.1:g.6624A>G, NM_000852.3:c.313A>G, NP_000843.1:p.Ile105Val, XM_005273958.1:c.313A>G, XP_005274015.1:p.Ile105Val, rs1138257, rs11553891, rs17353321, rs17856342, rs2230827, rs4609, rs56971933, rs947894
A > G
SNP
I105V
rs17021408 NC_000001.10:g.213943238T>C, NC_000001.11:g.213769895T>C, XR_922586.1:n.137-24489T>C, XR_922587.1:n.136+38337T>C
T > C
SNP
rs1703794 NC_000015.10:g.99069944T>C, NC_000015.9:g.99613173T>C, NW_003871084.1:g.85897A>G, rs56586848, rs59536856
T > C
SNP
rs17222723 NC_000010.10:g.101595996T>A, NC_000010.11:g.99836239T>A, NG_011798.1:g.58534T>A, NM_000392.4:c.3563T>A, NP_000383.1:p.Val1188Glu, XM_005269536.1:c.3284T>A, XM_006717630.2:c.2867T>A, XP_005269593.1:p.Val1095Glu, XP_006717693.1:p.Val956Glu, XR_945604.1:n.3752T>A, XR_945605.1:n.3754T>A, rs52837755, rs59106280
T > A
SNP
V1188E
rs17264736 NC_000016.10:g.16022699G=, NC_000016.10:g.16022699G>T, NC_000016.9:g.16116556G>T, NG_028268.1:g.78123G=, NG_028268.1:g.78123G>T, NM_004996.3:c.615+6078G>T, NM_004996.3:c.615+6078T>G, NT_187607.1:g.1680578T=, NT_187607.1:g.1680578T>G, XM_005255326.1:c.615+6078G>T, XM_005255327.1:c.489+8071G>T, XM_005255328.1:c.477+6078G>T, XM_005255329.1:c.615+6078G>T, XM_011522497.1:c.591+6078G>T, XM_011522497.1:c.591+6078T>G, XM_011522498.1:c.669+6078G>T, XM_011522498.1:c.669+6078T>G, rs386543216, rs60563196
G > T
SNP
rs17421511 NC_000001.10:g.11857788G>A, NC_000001.11:g.11797731G>A, NG_013351.1:g.13373C>T, NM_005957.4:c.587-1332C>T, XM_005263458.1:c.710-1332C>T, XM_005263458.2:c.710-1332C>T, XM_005263459.1:c.656-1332C>T, XM_005263460.1:c.587-1332C>T, XM_005263460.3:c.587-1332C>T, XM_005263461.1:c.587-1332C>T, XM_005263461.3:c.587-1332C>T, XM_005263462.1:c.587-1332C>T, XM_005263462.3:c.587-1332C>T, XM_005263463.1:c.341-1332C>T, XM_005263463.2:c.341-1332C>T, XM_011541495.1:c.707-1332C>T, XM_011541496.1:c.710-1332C>T, rs386543626, rs52805472
G > A
SNP
rs17514110 NC_000002.11:g.216205484C>T, NC_000002.12:g.215340761C>T, NG_013002.1:g.33806C>T, NM_004044.6:c.1227+1854C>T, rs60876088
C > T
SNP
rs17602729 NC_000001.10:g.115236057G>A, NC_000001.11:g.114693436G>A, NG_008012.1:g.7120C>T, NM_000036.2:c.133C>T, NM_001172626.1:c.121+2014C>T, NP_000027.2:p.Gln45Ter, rs52833197
G > A
SNP
Q45*
rs17731538 NC_000004.11:g.89055379G>A, NC_000004.12:g.88134227G>A, NG_032067.2:g.102096C>T, NM_001257386.1:c.204-1592C>T, NM_004827.2:c.204-1592C>T, XM_005263354.1:c.204-1592C>T, XM_005263354.2:c.204-1592C>T, XM_005263355.1:c.204-1592C>T, XM_005263355.2:c.204-1592C>T, XM_005263356.1:c.204-1592C>T, XM_005263356.2:c.204-1592C>T, XM_011532420.1:c.204-1592C>T, rs57419238
G > A
SNP
rs1799793 NC_000019.10:g.45364001C>T, NC_000019.9:g.45867259C>T, NG_007067.2:g.11587G>A, NM_000400.3:c.934G>A, NM_001130867.1:c.862G>A, NP_000391.1:p.Asp312Asn, NP_001124339.1:p.Asp288Asn, XM_005258639.1:c.862G>A, XM_005258640.1:c.700G>A, XM_005258641.1:c.196G>A, XM_005258642.1:c.934G>A, XM_011526611.1:c.856G>A, XP_005258696.1:p.Asp288Asn, XP_005258697.1:p.Asp234Asn, XP_005258698.1:p.Asp66Asn, XP_005258699.1:p.Asp312Asn, XP_011524913.1:p.Asp286Asn, XR_935763.1:n.981G>A, rs3916814, rs58989209
C > T
SNP
D312N
rs1799983 NC_000007.13:g.150696111T>G, NC_000007.14:g.150999023T>G, NG_011992.1:g.12965T>G, NM_000603.4:c.894T>G, NM_001160109.1:c.894T>G, NM_001160110.1:c.894T>G, NM_001160111.1:c.894T>G, NP_000594.2:p.Asp298Glu, NP_001153581.1:p.Asp298Glu, NP_001153582.1:p.Asp298Glu, NP_001153583.1:p.Asp298Glu, XM_006716002.2:c.894T>G, XP_006716065.1:p.Asp298Glu, rs11266811, rs13238975, rs13305983, rs13308813, rs17173672, rs3730304, rs57135373
T > G
SNP
D298E
rs1800460 NC_000006.11:g.18139228C>T, NC_000006.12:g.18138997C>T, NG_012137.2:g.21147G>A, NM_000367.3:c.460G>A, NP_000358.1:p.Ala154Thr, XM_011514839.1:c.460G>A, XM_011514840.1:c.391G>A, XP_011513141.1:p.Ala154Thr, XP_011513142.1:p.Ala131Thr, rs11568060, rs16880273, rs386545583, rs57650974
C > T
SNP
A154T
rs1800566 NC_000016.10:g.69711242G>A, NC_000016.9:g.69745145G>A, NG_011504.1:g.20389C>T, NM_000903.2:c.559C>T, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, NP_000894.1:p.Pro187Ser, NP_001020604.1:p.Pro153Ser, NP_001020605.1:p.Pro149Ser, NP_001273066.1:p.Pro115Ser, XM_005255830.1:c.343C>T, XP_005255887.1:p.Pro115Ser, rs4134727, rs4149351, rs57135274
G > A
SNP
P187S
rs1800909 NC_000008.10:g.63951312A>G, NC_000008.11:g.63038753A>G, NG_028126.1:g.5299T>C, NM_003878.2:c.16T>C, NP_003869.1:p.Cys6Arg, XM_011517623.1:c.16T>C, XP_011515925.1:p.Cys6Arg
A > G
SNP
C6R
rs1801131 NC_000001.10:g.11854476T>G, NC_000001.11:g.11794419T>G, NG_013351.1:g.16685A>C, NM_005957.4:c.1286A>C, NP_005948.3:p.Glu429Ala, XM_005263458.1:c.1409A>C, XM_005263458.2:c.1409A>C, XM_005263459.1:c.1355A>C, XM_005263460.1:c.1286A>C, XM_005263460.3:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263461.3:c.1286A>C, XM_005263462.1:c.1286A>C, XM_005263462.3:c.1286A>C, XM_005263463.1:c.1040A>C, XM_005263463.2:c.1040A>C, XM_011541495.1:c.1406A>C, XM_011541496.1:c.1409A>C, XP_005263515.1:p.Glu470Ala, XP_005263516.1:p.Glu452Ala, XP_005263517.1:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, XP_005263519.1:p.Glu429Ala, XP_005263520.1:p.Glu347Ala, XP_011539797.1:p.Glu469Ala, XP_011539798.1:p.Glu470Ala, rs17367365, rs17857426, rs4134712
T > G
SNP
E429A
rs1801133 NC_000001.10:g.11856378G>A, NC_000001.11:g.11796321G>A, NG_013351.1:g.14783C>T, NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, XM_005263458.1:c.788C>T, XM_005263458.2:c.788C>T, XM_005263459.1:c.734C>T, XM_005263460.1:c.665C>T, XM_005263460.3:c.665C>T, XM_005263461.1:c.665C>T, XM_005263461.3:c.665C>T, XM_005263462.1:c.665C>T, XM_005263462.3:c.665C>T, XM_005263463.1:c.419C>T, XM_005263463.2:c.419C>T, XM_011541495.1:c.785C>T, XM_011541496.1:c.788C>T, XP_005263515.1:p.Ala263Val, XP_005263516.1:p.Ala245Val, XP_005263517.1:p.Ala222Val, XP_005263518.1:p.Ala222Val, XP_005263519.1:p.Ala222Val, XP_005263520.1:p.Ala140Val, XP_011539797.1:p.Ala262Val, XP_011539798.1:p.Ala263Val, rs386545618, rs4134713, rs59514310
G > A
SNP
A222V
rs1801394 NC_000005.10:g.7870860A>G, NC_000005.9:g.7870973A>G, NG_008856.1:g.6757A>G, NG_033101.1:g.3178T>C, NM_002454.2:c.66A>G, NM_024010.2:c.147A>G, NM_024091.3:c.-1995T>C, NP_002445.2:p.Ile22Met, NP_076915.2:p.Ile49Met, NR_036553.1:n.-1823T>C, NR_073608.1:n.-1823T>C, NR_134480.1:n.203A>G, NR_134481.1:n.203A>G, NR_134482.1:n.203A>G, XM_005248304.1:c.111A>G, XM_005248305.1:c.66A>G, XM_006714474.2:c.147A>G, XM_006714498.1:c.-1906T>C, XM_011514043.1:c.147A>G, XM_011514044.1:c.66A>G, XM_011514045.1:c.147A>G, XP_005248361.1:p.Ile37Met, XP_005248362.1:p.Ile22Met, XP_006714537.1:p.Ile49Met, XP_011512345.1:p.Ile49Met, XP_011512346.1:p.Ile22Met, XP_011512347.1:p.Ile49Met, XR_241701.1:n.169A>G, XR_241702.1:n.169A>G, XR_241703.1:n.162A>G, XR_427664.1:n.-1823T>C, XR_925614.1:n.169A>G, XR_925615.1:n.169A>G, rs52813630
A > G
SNP
I22M
rs1805087 NC_000001.10:g.237048500A>G, NC_000001.11:g.236885200A>G, NG_008959.1:g.94920A>G, NM_000254.2:c.2756A>G, NM_001291939.1:c.2603A>G, NM_001291940.1:c.1535A>G, NP_000245.2:p.Asp919Gly, NP_001278868.1:p.Asp868Gly, NP_001278869.1:p.Asp512Gly, XM_005273140.1:c.2924A>G, XM_005273141.1:c.2753A>G, XM_005273141.3:c.2753A>G, XM_005273142.1:c.2666A>G, XM_005273143.1:c.2603A>G, XM_005273144.1:c.2318A>G, XM_005273145.1:c.1118A>G, XM_006711769.2:c.2756A>G, XM_006711770.1:c.1820A>G, XM_011544193.1:c.2567A>G, XM_011544194.1:c.2924A>G, XP_005273197.1:p.Asp975Gly, XP_005273198.1:p.Asp918Gly, XP_005273199.1:p.Asp889Gly, XP_005273200.1:p.Asp868Gly, XP_005273201.1:p.Asp773Gly, XP_005273202.1:p.Asp373Gly, XP_006711832.1:p.Asp919Gly, XP_006711833.1:p.Asp607Gly, XP_011542495.1:p.Asp856Gly, XP_011542496.1:p.Asp975Gly, rs17658739, rs56618494, rs61036243
A > G
SNP
D919G
rs1891059 NC_000001.10:g.213946009G>A, NC_000001.11:g.213772666G>A, XR_922586.1:n.137-21718G>A, XR_922587.1:n.136+41108G>A
G > A
SNP
rs1901633 NC_000010.10:g.4810561A>G, NC_000010.11:g.4768369A>G, XR_930599.1:n.-1817T>C, rs17373082, rs58749271
A > G
SNP
rs197388 NC_000001.10:g.112297482A>T, NC_000001.11:g.111754860A>T, NM_007204.4:c.-1065A>T, NM_198926.2:c.12+841T>A, NR_125963.1:n.222+428T>A, XR_246395.1:n.249+428T>A, XR_246396.1:n.-1300T>A, rs59798432
A > T
SNP
rs1979277 NC_000017.10:g.18232096G>A, NC_000017.11:g.18328782G>A, NG_017111.1:g.39761C>T, NM_001281786.1:c.1006C>T, NM_004169.4:c.1420C>T, NM_148918.2:c.1303C>T, NP_001268715.1:p.Leu336Phe, NP_004160.3:p.Leu474Phe, NP_683718.1:p.Leu435Phe, XM_005256767.1:c.1420C>T, XM_005256767.2:c.1420C>T, XM_005256768.1:c.1006C>T, XM_011523992.1:c.1180C>T, XP_005256824.1:p.Leu474Phe, XP_005256825.1:p.Leu336Phe, XP_011522294.1:p.Leu394Phe, rs17850285, rs2230025, rs3183766, rs57933897
G > A
SNP
L336F
rs2032582 NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018
A > C
A > T
SNP
S893A
rs2070744 NC_000007.13:g.150690079C=, NC_000007.13:g.150690079C>T, NC_000007.14:g.150992991C=, NC_000007.14:g.150992991C>T, NG_011992.1:g.6933C=, NG_011992.1:g.6933C>T, NM_000603.4:c.-51-762C=, NM_000603.4:c.-51-762C>T, NM_001160109.1:c.-813C=, NM_001160109.1:c.-813C>T, NM_001160110.1:c.-813C=, NM_001160110.1:c.-813C>T, NM_001160111.1:c.-813C=, NM_001160111.1:c.-813C>T, XM_006716002.2:c.-813C=, XM_006716002.2:c.-813C>T, rs10333298, rs34629525, rs61324345
C > T
SNP
rs2114358 NC_000008.10:g.129021179G>A, NC_000008.11:g.128008933G>A, NR_003367.3:n.1212+19642G>A, NR_031611.1:n.36G>A, rs13269734, rs61088727
G > C
G > T
SNP
rs2177735 NC_000002.11:g.216207875G>A, NC_000002.12:g.215343152G>A, NG_013002.1:g.36197G>A, NM_004044.6:c.1228-1627G>A, rs4499424
G > A
SNP
rs2229109 NC_000007.13:g.87179809C>T, NC_000007.14:g.87550493C>T, NG_011513.1:g.167756G>A, NM_000927.4:c.1199G>A, NP_000918.2:p.Ser400Asn, rs17276921, rs2235031, rs386561706, rs59635509
C > T
SNP
S400N
rs2231135 NC_000004.11:g.89079994A>G, NC_000004.12:g.88158842A>G, NG_032067.2:g.77481T>C, NM_001257386.1:c.-19-18828T>C, NM_004827.2:c.-476T>C, XM_005263354.1:c.-285T>C, XM_005263354.2:c.-285T>C, XM_005263355.1:c.-19-18828T>C, XM_005263355.2:c.-19-18828T>C, XM_005263356.1:c.-476T>C, XM_005263356.2:c.-476T>C, XM_011532420.1:c.-19-18828T>C, rs57106183
A > G
SNP
rs2231137 NC_000004.11:g.89061114C>T, NC_000004.12:g.88139962C>T, NG_032067.2:g.96361G>A, NM_001257386.1:c.34G>A, NM_004827.2:c.34G>A, NP_001244315.1:p.Val12Met, NP_004818.2:p.Val12Met, XM_005263354.1:c.34G>A, XM_005263354.2:c.34G>A, XM_005263355.1:c.34G>A, XM_005263355.2:c.34G>A, XM_005263356.1:c.34G>A, XM_005263356.2:c.34G>A, XM_011532420.1:c.34G>A, XP_005263411.1:p.Val12Met, XP_005263412.1:p.Val12Met, XP_005263413.1:p.Val12Met, XP_011530722.1:p.Val12Met
C > T
SNP
V12M
rs2231142 NC_000004.11:g.89052323G>T, NC_000004.12:g.88131171G>T, NG_032067.2:g.105152C>A, NM_001257386.1:c.421C>A, NM_004827.2:c.421C>A, NP_001244315.1:p.Gln141Lys, NP_004818.2:p.Gln141Lys, XM_005263354.1:c.421C>A, XM_005263354.2:c.421C>A, XM_005263355.1:c.421C>A, XM_005263355.2:c.421C>A, XM_005263356.1:c.421C>A, XM_005263356.2:c.421C>A, XM_011532420.1:c.421C>A, XP_005263411.1:p.Gln141Lys, XP_005263412.1:p.Gln141Lys, XP_005263413.1:p.Gln141Lys, XP_011530722.1:p.Gln141Lys, rs12721641, rs28365035, rs3736117, rs52809243, rs58973676
G > T
SNP
Q141K
rs2236225 NC_000014.8:g.64908845G>A, NC_000014.9:g.64442127G>A, NG_012450.1:g.59087G>A, NM_005956.3:c.1958G>A, NP_005947.3:p.Arg653Gln, XM_005267693.1:c.2126G>A, XP_005267750.1:p.Arg709Gln, rs117048039, rs17751608, rs17850560, rs52810262, rs56503831, rs58065500
G > A
SNP
R653Q
rs2236624 NC_000022.10:g.24836024T>C, NC_000022.11:g.24440056T>C, NM_000675.5:c.333-527T>C, NM_001278497.1:c.333-527T>C, NM_001278498.1:c.333-527T>C, NM_001278499.1:c.333-527T>C, NM_001278500.1:c.333-527T>C, NR_028483.2:n.1271-489A>G, NR_028484.2:n.833+1936A>G, NR_103543.1:n.186-527T>C, NR_103544.1:n.166-527T>C, NR_103546.1:n.4512-527T>C, rs386562087, rs59907471
T > C
SNP
rs2238476 NC_000016.10:g.16120015G>A, NC_000016.9:g.16213872G>A, NG_028268.1:g.175439G>A, NM_004996.3:c.3391-1960G>A, NT_187607.1:g.1777880G>A, XM_005255326.1:c.3421-1960G>A, XM_005255327.1:c.3265-1960G>A, XM_005255328.1:c.3253-1960G>A, XM_005255329.1:c.3214-1960G>A, XM_011522497.1:c.3367-1960G>A, XM_011522498.1:c.3298-1960G>A, rs59331160
G > A
SNP
rs2267076 NC_000022.10:g.24830595T>C, NC_000022.11:g.24434627T>C, NM_000675.5:c.332+891T>C, NM_001278497.1:c.332+891T>C, NM_001278498.1:c.332+891T>C, NM_001278499.1:c.332+891T>C, NM_001278500.1:c.332+891T>C, NR_028484.2:n.834-2193A>G, NR_103543.1:n.186-5956T>C, NR_103544.1:n.166-5956T>C, NR_103546.1:n.4511+891T>C
T > C
SNP
rs2273697 NC_000010.10:g.101563815G>A, NC_000010.11:g.99804058G>A, NG_011798.1:g.26353G>A, NM_000392.4:c.1249G>A, NP_000383.1:p.Val417Ile, XM_005269536.1:c.1249G>A, XM_006717630.2:c.553G>A, XM_006717631.2:c.1249G>A, XM_011539291.1:c.1249G>A, XP_005269593.1:p.Val417Ile, XP_006717693.1:p.Val185Ile, XP_006717694.1:p.Val417Ile, XP_011537593.1:p.Val417Ile, XR_945604.1:n.1438G>A, XR_945605.1:n.1440G>A, rs17216184, rs60620335
G > A
SNP
V417I
rs2274407 NC_000013.10:g.95859035C>A, NC_000013.11:g.95206781C>A, NM_001105515.2:c.912G>T, NM_001301829.1:c.912G>T, NM_001301830.1:c.687G>T, NM_005845.4:c.912G>T, NP_001098985.1:p.Lys304Asn, NP_001288758.1:p.Lys304Asn, NP_001288759.1:p.Lys229Asn, NP_005836.2:p.Lys304Asn, XM_005254025.1:c.783G>T, XM_005254025.2:c.783G>T, XM_005254026.1:c.912G>T, XM_005254027.1:c.687G>T, XM_005254028.1:c.687G>T, XM_006719914.1:c.912G>T, XM_011521047.1:c.363G>T, XP_005254082.1:p.Lys261Asn, XP_005254083.1:p.Lys304Asn, XP_005254084.1:p.Lys229Asn, XP_005254085.1:p.Lys229Asn, XP_006719977.1:p.Lys304Asn, XP_011519349.1:p.Lys121Asn, rs117944872, rs52813831, rs58221897
C > A
SNP
K304N
rs2274808 NC_000021.8:g.46906627C>T, NC_000021.9:g.45486713C>T, NG_011903.1:g.86531C>T, NM_030582.3:c.2242-148C>T, NM_130444.2:c.2947-148C>T, NM_130445.2:c.1702-148C>T, NM_130445.3:c.1702-148C>T, XM_005261178.1:c.2242-148C>T, XM_005261179.1:c.2242-148C>T, XM_005261180.1:c.2143-148C>T, XM_005261181.1:c.1702-148C>T, XM_005261182.1:c.1678-148C>T, rs13046404, rs60892202
C > T
SNP
rs2274976 NC_000001.10:g.11850927C>T, NC_000001.11:g.11790870C>T, NG_013351.1:g.20234G>A, NM_005957.4:c.1781G>A, NP_005948.3:p.Arg594Gln, XM_005263458.1:c.1904G>A, XM_005263458.2:c.1904G>A, XM_005263459.1:c.1822-154G>A, XM_005263460.1:c.1781G>A, XM_005263460.3:c.1781G>A, XM_005263461.1:c.1781G>A, XM_005263461.3:c.1781G>A, XM_005263462.1:c.1781G>A, XM_005263462.3:c.1781G>A, XM_005263463.1:c.1535G>A, XM_005263463.2:c.1535G>A, XM_011541495.1:c.1901G>A, XM_011541496.1:c.1876-154G>A, XP_005263515.1:p.Arg635Gln, XP_005263517.1:p.Arg594Gln, XP_005263518.1:p.Arg594Gln, XP_005263519.1:p.Arg594Gln, XP_005263520.1:p.Arg512Gln, XP_011539797.1:p.Arg634Gln, rs17854807, rs386563247, rs52829200, rs58316272
C > T
SNP
R594Q
rs2278293 NC_000007.13:g.128040752C>T, NC_000007.14:g.128400698C>T, NG_009194.1:g.14285G>A, NM_000883.3:c.579+119G>A, NM_001102605.1:c.549+119G>A, NM_001142573.1:c.324+119G>A, NM_001142574.1:c.309+134G>A, NM_001142575.1:c.250-159G>A, NM_001142576.1:c.480+119G>A, NM_001304521.1:c.372+119G>A, NM_183243.2:c.471+119G>A, XM_005250313.1:c.372+119G>A, XM_005250314.1:c.348+119G>A, XM_005250315.1:c.324+119G>A, XM_005250316.1:c.-62+119G>A, XM_006715967.1:c.579+119G>A, XM_006715968.1:c.549+119G>A, XM_006715969.1:c.471+119G>A, XM_006715970.2:c.372+119G>A, XM_006715971.1:c.348+119G>A, XM_011516156.1:c.-220G>A, XM_011516157.1:c.-220G>A, rs10348032, rs60861084
C > T
SNP
rs2287584 NC_000005.10:g.31422900T>C, NC_000005.9:g.31423007T>C, NM_001100412.1:c.3195A>G, NM_013235.4:c.3306A>G, NP_001093882.1:p.Pro1065=, NP_037367.3:p.Pro1102=, XM_005248291.1:c.3306A>G, XM_005248291.2:c.3306A>G, XM_005248292.1:c.3282A>G, XM_005248292.2:c.3282A>G, XM_005248293.1:c.3213A>G, XM_005248293.2:c.3213A>G, XM_005248294.1:c.3102A>G, XM_005248294.2:c.3102A>G, XM_011514033.1:c.3306A>G, XP_005248348.1:p.Pro1102=, XP_005248349.1:p.Pro1094=, XP_005248350.1:p.Pro1071=, XP_005248351.1:p.Pro1034=, XP_011512335.1:p.Pro1102=, rs57044049
T > C
SNP
P1065P
rs2289030 NC_000012.11:g.95228286G>C, NC_000012.12:g.94834510G>C, NR_030171.1:n.113G>C, NR_036685.1:n.57G>C, rs59816854
G > C
SNP
rs2298383 NC_000022.10:g.24825511C>T, NC_000022.11:g.24429543C>T, NM_000675.5:c.-275+1797C>T, NM_001278499.1:c.-275+1817C>T, NM_001278500.1:c.-274-3588C>T, NR_028484.2:n.2494G>A, NR_103543.1:n.185+1797C>T, NR_103544.1:n.165+1817C>T, NR_103546.1:n.3906-3588C>T, rs59635240
C > A
C > G
SNP
rs2302489
A > T
SNP
rs2306283 NC_000012.11:g.21329738A>G, NC_000012.12:g.21176804A>G, NG_011745.1:g.50611A>G, NM_006446.4:c.388A>G, NP_006437.3:p.Asn130Asp, rs17389242, rs52832430, rs60767041
A > G
SNP
N130D
rs2368393 NC_000010.10:g.29833998A>G, NC_000010.11:g.29545069A>G, NG_033998.1:g.195733T>C, NM_003174.3:c.827+5528T>C, NM_021738.2:c.827+5528T>C, NR_030335.1:n.29T>C, XM_005252564.1:c.1061+5528T>C, XM_005252565.1:c.1061+5528T>C, XM_005252566.1:c.1061+5528T>C, XM_005252567.1:c.1061+5528T>C, XM_005252568.1:c.1061+5528T>C, XM_005252569.1:c.1061+5528T>C, XM_005252570.1:c.827+5528T>C, XM_005252570.2:c.827+5528T>C, XM_005252571.1:c.827+5528T>C, XM_005252571.2:c.827+5528T>C, XM_005252572.1:c.827+5528T>C, XM_005252573.1:c.827+5528T>C, XM_005252573.2:c.827+5528T>C, XM_011519630.1:c.827+5528T>C, XM_011519631.1:c.827+5528T>C, XM_011519632.1:c.827+5528T>C, XM_011519633.1:c.827+5528T>C, XM_011519634.1:c.827+5528T>C, XM_011519635.1:c.827+5528T>C, XM_011519636.1:c.827+5528T>C, XM_011519637.1:c.827+5528T>C, XM_011519638.1:c.827+5528T>C, XM_011519639.1:c.827+5528T>C, XM_011519640.1:c.827+5528T>C
A > G
SNP
rs2372536 NC_000002.11:g.216190020C>G, NC_000002.12:g.215325297C>G, NG_013002.1:g.18342C>G, NM_004044.6:c.347C>G, NP_004035.2:p.Thr116Ser, rs3821352, rs52824931
C > G
SNP
T116S
rs2413739 NC_000022.10:g.43397036C>T, NC_000022.11:g.43001030C>T, NM_001184970.1:c.-78+13991G>A, XM_005261319.1:c.-78+13991G>A, XM_005261319.3:c.-78+13991G>A, XM_011529846.1:c.-78+13991G>A, XM_011529852.1:c.-64+13991G>A, XM_011529853.1:c.-78+13991G>A
C > T
SNP
rs2413775 NC_000015.10:g.45252090T>A, NC_000015.9:g.45544288T>A, NM_004212.3:c.-205T>A, NR_120335.1:n.181-18A>T, XM_011522198.1:c.-230T>A, XM_011522199.1:c.-205T>A, XM_011522200.1:c.-205T>A, XM_011522201.1:c.-205T>A, XR_243147.1:n.271-18A>T, rs3759897, rs59171024
T > A
SNP
rs244076 NC_000020.10:g.43252915T>C, NC_000020.11:g.44624274T>C, NG_007385.1:g.32462A>G, NM_000022.2:c.534A>G, NP_000013.2:p.Val178=, XM_005260236.1:c.534A>G, XM_005260236.2:c.534A>G, XM_005260237.1:c.534A>G, XM_005260238.1:c.129A>G, XM_011528478.1:c.129A>G, XM_011528479.1:c.129A>G, XP_005260293.1:p.Val178=, XP_005260294.1:p.Val178=, XP_005260295.1:p.Val43=, XP_011526780.1:p.Val43=, XP_011526781.1:p.Val43=, XR_244129.1:n.588A>G, rs117526070, rs3171232
T > C
SNP
V178V
rs246240 NC_000016.10:g.16025167A>G, NC_000016.9:g.16119024A>G, NG_028268.1:g.80591A>G, NM_004996.3:c.616-7942A>G, NT_187607.1:g.1683048A>G, XM_005255326.1:c.616-7942A>G, XM_005255327.1:c.490-7942A>G, XM_005255328.1:c.478-7942A>G, XM_005255329.1:c.616-7942A>G, XM_011522497.1:c.592-7942A>G, XM_011522498.1:c.670-7942A>G, rs1173277, rs248402, rs435989, rs59152122, rs601879
A > G
SNP
rs2476601 NC_000001.10:g.114377568A=, NC_000001.10:g.114377568A>G, NC_000001.11:g.113834946A=, NC_000001.11:g.113834946A>G, NG_011432.1:g.41808C=, NG_011432.1:g.41808C>T, NM_001193431.2:c.1858C=, NM_001193431.2:c.1858C>T, NM_001308297.1:c.1786C=, NM_001308297.1:c.1786C>T, NM_012411.5:c.1693C=, NM_012411.5:c.1693C>T, NM_015967.5:c.1858C>T, NM_015967.6:c.1858C=, NM_015967.6:c.1858C>T, NP_001180360.1:p.Arg620=, NP_001180360.1:p.Arg620Trp, NP_001295226.1:p.Arg596=, NP_001295226.1:p.Arg596Trp, NP_036543.4:p.Arg565=, NP_036543.4:p.Arg565Trp, NP_057051.3:p.Arg620=, NP_057051.3:p.Arg620Trp, NR_125965.1:n.414+19474A>G, NR_125965.1:n.414+19474G>A, XM_005270738.1:c.1786T=, XM_005270738.1:c.1786T>C, XM_005270738.2:c.1786T=, XM_005270738.2:c.1786T>C, XM_011541221.1:c.1780T=, XM_011541221.1:c.1780T>C, XM_011541222.1:c.1858T=, XM_011541222.1:c.1858T>C, XM_011541223.1:c.1858T=, XM_011541223.1:c.1858T>C, XM_011541224.1:c.1414T=, XM_011541224.1:c.1414T>C, XM_011541225.1:c.1786T=, XM_011541225.1:c.1786T>C, XP_005270795.1:p.Trp596=, XP_005270795.1:p.Trp596Arg, XP_011539523.1:p.Trp594=, XP_011539523.1:p.Trp594Arg, XP_011539524.1:p.Trp620=, XP_011539524.1:p.Trp620Arg, XP_011539525.1:p.Trp620=, XP_011539525.1:p.Trp620Arg, XP_011539526.1:p.Trp472=, XP_011539526.1:p.Trp472Arg, XP_011539527.1:p.Trp596=, XP_011539527.1:p.Trp596Arg, rs117063937, rs52834763, rs60104027
A > G
SNP
R620W
rs2650972 NC_000020.10:g.6783274T>C, NC_000020.11:g.6802627T>C, rs111195393, rs59264576
T > C
SNP
rs2682818 NC_000012.11:g.81329536A>C, NC_000012.12:g.80935757A>C, NM_004664.2:c.82+1884T>G, NR_030349.1:n.77T>G, XM_005269212.1:c.82+1884T>G, XM_011538928.1:c.82+1884T>G, XM_011539062.1:c.-779A>C
A > G
A > T
SNP
rs2734414
A > T
SNP
rs2734440
C > A
C > T
SNP
rs2740574 NC_000007.13:g.99382096C>T, NC_000007.14:g.99784473C>T, NG_008421.1:g.4713G>A, NM_001202855.2:c.-392G>A, NM_017460.5:c.-392G>A, XM_011515841.1:c.-392G>A, XM_011515842.1:c.-392G>A, rs3176920, rs36231114, rs59393892
C > T
SNP
rs28364006 NC_000016.10:g.16134392A>G, NC_000016.9:g.16228249A>G, NG_028268.1:g.189816A>G, NM_004996.3:c.4009A>G, NP_004987.2:p.Thr1337Ala, NT_187607.1:g.1792283A>G, XM_005255326.1:c.4039A>G, XM_005255327.1:c.3883A>G, XM_005255328.1:c.3871A>G, XM_005255329.1:c.3832A>G, XM_011522497.1:c.3985A>G, XM_011522498.1:c.3916A>G, XP_005255383.1:p.Thr1347Ala, XP_005255384.1:p.Thr1295Ala, XP_005255385.1:p.Thr1291Ala, XP_005255386.1:p.Thr1278Ala, XP_011520799.1:p.Thr1329Ala, XP_011520800.1:p.Thr1306Ala, rs45544333
A > G
SNP
T1337A
rs2838956 NC_000021.8:g.46945024A>G, NC_000021.9:g.45525110A>G, NG_028278.1:g.22362T>C, NM_001205206.1:c.1293+707T>C, NM_001205207.1:c.1173+707T>C, NM_194255.2:c.1293+707T>C, XM_005261163.1:c.1293+707T>C, XM_005261164.1:c.939+707T>C, XM_005261164.2:c.939+707T>C, XM_011529696.1:c.1584+707T>C, XM_011529697.1:c.1584+707T>C, XM_011529698.1:c.1359+707T>C, XM_011529699.1:c.1320+707T>C, XM_011529700.1:c.1293+707T>C, XM_011529701.1:c.1293+707T>C, XM_011529702.1:c.1293+707T>C, XM_011529703.1:c.1293+707T>C, XM_011529704.1:c.1293+707T>C, XM_011529705.1:c.1584+707T>C, XM_011529706.1:c.1155+707T>C, XM_011529707.1:c.1584+707T>C, XM_011529708.1:c.1293+707T>C, XM_011529709.1:c.939+707T>C, XM_011529710.1:c.939+707T>C, rs60159565
A > G
SNP
rs2853539 NC_000018.10:g.659829A>G, NC_000018.9:g.659829A>G, NG_028255.1:g.7226A>G, NM_001012716.2:c.-1582T>C, NM_001071.2:c.279+115A>G, XM_005258137.1:c.279+115A>G, XM_005258138.1:c.205+1882A>G
A > G
SNP
rs2910164 NC_000005.10:g.160485411C>G, NC_000005.9:g.159912418C>G, NR_029701.1:n.60C>G, NR_132748.1:n.303C>G, rs56537094, rs57852408, rs61270459
C > G
SNP
rs3045983
GGGAGCTGG > -
indel
rs34115976 NC_000004.11:g.115577997C>G, NC_000004.12:g.114656841C>G, NM_001128174.1:c.823-7154C>G, NM_003360.3:c.823-7154C>G, NR_030303.1:n.83C>G, XM_006714302.2:c.823-7154C>G, XM_006714303.2:c.823-7154C>G, XM_011532232.1:c.823-7154C>G, XR_244645.1:n.1052-7154C>G
C > G
SNP
rs34324334 NC_000006.11:g.43535018C>T, NC_000006.12:g.43567281C>T, NM_020750.2:c.722G>A, NP_065801.1:p.Ser241Asn
C > T
SNP
S241N
rs34965641 NC_000005.10:g.80646557G>A, NC_000005.9:g.79942376G>A, NG_023304.1:g.13425C>T, NM_000791.3:c.242+2832C>T, NM_001290354.1:c.86+2832C>T, NM_001290357.1:c.242+2832C>T, NR_110936.1:n.684+2832C>T, XM_005248455.1:c.131+2832C>T, XM_005248456.1:c.86+2832C>T, rs386583121
G > A
SNP
rs351855 NC_000005.10:g.177093242G>A, NC_000005.9:g.176520243G>A, NG_012067.1:g.11323G>A, NM_001291980.1:c.1097+65G>A, NM_002011.4:c.1162G>A, NM_022963.3:c.1058-90G>A, NM_213647.2:c.1162G>A, NP_002002.3:p.Gly388Arg, NP_998812.1:p.Gly388Arg, XM_005265837.1:c.1258G>A, XM_005265838.1:c.1162G>A, XM_005265838.2:c.1162G>A, XM_005265839.1:c.1097+65G>A, XM_011534464.1:c.1255G>A, XM_011534465.1:c.844G>A, XP_005265894.1:p.Gly420Arg, XP_005265895.1:p.Gly388Arg, XP_011532766.1:p.Gly419Arg, XP_011532767.1:p.Gly282Arg, XR_941090.1:n.1207G>A, rs117475361, rs56695235
G > A
SNP
G388R
rs35592 NC_000016.10:g.16047966T>C, NC_000016.9:g.16141823T>C, NG_028268.1:g.103390T>C, NM_004996.3:c.1219-176T>C, NT_187607.1:g.1705863T>C, XM_005255326.1:c.1219-176T>C, XM_005255327.1:c.1093-176T>C, XM_005255328.1:c.1081-176T>C, XM_005255329.1:c.1219-176T>C, XM_011522497.1:c.1195-176T>C, XM_011522498.1:c.1273-176T>C, rs1173294, rs666803
T > C
SNP
rs3737967 NC_000001.10:g.11847449G>A, NC_000001.11:g.11787392G>A, NG_013351.1:g.23712C>T, NM_001010881.1:c.3572G>A, NM_005957.4:c.*3288C>T, NP_001010881.1:p.Arg1191His, XM_003118845.3:c.3572G>A, XM_005263458.1:c.*3288C>T, XM_005263459.1:c.*3148C>T, XM_005263460.1:c.*3288C>T, XM_005263461.1:c.*3288C>T, XM_005263462.1:c.*3288C>T, XM_005263463.1:c.*3288C>T, XM_006711078.2:c.3572G>A, XM_011541267.1:c.3707G>A, XM_011541268.1:c.3707G>A, XM_011541269.1:c.3707G>A, XM_011541270.1:c.3707G>A, XM_011541271.1:c.3653G>A, XM_011541272.1:c.3707G>A, XM_011541273.1:c.3572G>A, XM_011541274.1:c.3572G>A, XM_011541275.1:c.3572G>A, XM_011541276.1:c.3707G>A, XM_011541277.1:c.3707G>A, XM_011541278.1:c.3707G>A, XM_011541279.1:c.3299G>A, XM_011541280.1:c.1988G>A, XM_011541281.1:c.1988G>A, XP_003118893.3:p.Arg1191His, XP_006711141.1:p.Arg1191His, XP_011539569.1:p.Arg1236His, XP_011539570.1:p.Arg1236His, XP_011539571.1:p.Arg1236His, XP_011539572.1:p.Arg1236His, XP_011539573.1:p.Arg1218His, XP_011539574.1:p.Arg1236His, XP_011539575.1:p.Arg1191His, XP_011539576.1:p.Arg1191His, XP_011539577.1:p.Arg1191His, XP_011539578.1:p.Arg1236His, XP_011539579.1:p.Arg1236His, XP_011539580.1:p.Arg1236His, XP_011539581.1:p.Arg1100His, XP_011539582.1:p.Arg663His, XP_011539583.1:p.Arg663His, rs386585099
G > A
G > T
SNP
R1191H
rs3740065 NC_000010.10:g.101605693A>G, NC_000010.11:g.99845936A>G, NG_011798.1:g.68231A>G, NM_000392.4:c.4146+154A>G, XM_005269536.1:c.3867+154A>G, XM_006717630.2:c.3450+154A>G, XR_945604.1:n.4276+154A>G, XR_945605.1:n.4210+154A>G, rs386585170, rs61012324
A > G
SNP
rs3740066 NC_000010.10:g.101604207C>T, NC_000010.11:g.99844450C>T, NG_011798.1:g.66745C>T, NM_000392.4:c.3972C>T, NP_000383.1:p.Ile1324=, XM_005269536.1:c.3693C>T, XM_006717630.2:c.3276C>T, XP_005269593.1:p.Ile1231=, XP_006717693.1:p.Ile1092=, XR_945604.1:n.4161C>T, XR_945605.1:n.4036C>T, rs12780340, rs17216303, rs59292214
C > T
SNP
I1324I
rs3744741 NC_000017.10:g.649232C>T, NC_000017.11:g.745992C>T, NM_015721.2:c.2051G>A, NP_056536.2:p.Arg684Gln, XM_005256667.1:c.2063G>A, XM_005256667.3:c.2063G>A, XM_005256668.1:c.2063G>A, XM_005256668.3:c.2063G>A, XM_005256669.1:c.2018G>A, XM_005256670.1:c.2018G>A, XM_005256670.3:c.2018G>A, XM_011523910.1:c.2063G>A, XM_011523911.1:c.2063G>A, XM_011523912.1:c.2018G>A, XM_011523913.1:c.2018G>A, XP_005256724.1:p.Arg688Gln, XP_005256725.1:p.Arg688Gln, XP_005256726.1:p.Arg673Gln, XP_005256727.1:p.Arg673Gln, XP_011522212.1:p.Arg688Gln, XP_011522213.1:p.Arg688Gln, XP_011522214.1:p.Arg673Gln, XP_011522215.1:p.Arg673Gln, rs56482056, rs59343482
C > T
SNP
R684Q
rs3758149 NC_000008.10:g.63951728G>A, NC_000008.11:g.63039169G>A, NG_028126.1:g.4883C>T, NM_003878.2:c.-401C>T, XM_011517623.1:c.-401C>T
G > A
SNP
rs3761422 NC_000022.10:g.24826672T>C, NC_000022.11:g.24430704T>C, NM_000675.5:c.-274-2427T>C, NM_001278497.1:c.-2045T>C, NM_001278498.1:c.-1939T>C, NM_001278499.1:c.-274-2427T>C, NM_001278500.1:c.-274-2427T>C, NR_028484.2:n.1672+193A>G, NR_103543.1:n.185+2958T>C, NR_103544.1:n.165+2978T>C, NR_103546.1:n.3906-2427T>C, rs58256941
T > C
SNP
rs3763980 NC_000012.11:g.60173356A>T, NC_000012.12:g.59779575A>T, NM_001270622.1:c.1333A>T, NM_001270623.1:c.1333A>T, NM_004731.4:c.1333A>T, NP_001257551.1:p.Thr445Ser, NP_001257552.1:p.Thr445Ser, NP_004722.2:p.Thr445Ser, NR_073055.1:n.1773A>T, NR_073056.1:n.1634A>T, XM_005269231.1:c.1333A>T, XM_005269231.3:c.1333A>T, XM_005269232.1:c.1036A>T, XM_005269233.1:c.1036A>T, XM_011538989.1:c.1411A>T, XM_011538990.1:c.1411A>T, XM_011538991.1:c.1411A>T, XM_011538992.1:c.1411A>T, XM_011538993.1:c.1036A>T, XM_011538994.1:c.1036A>T, XM_011538995.1:c.1036A>T, XM_011538996.1:c.1036A>T, XM_011538997.1:c.1036A>T, XP_005269288.1:p.Thr445Ser, XP_005269289.1:p.Thr346Ser, XP_005269290.1:p.Thr346Ser, XP_011537291.1:p.Thr471Ser, XP_011537292.1:p.Thr471Ser, XP_011537293.1:p.Thr471Ser, XP_011537294.1:p.Thr471Ser, XP_011537295.1:p.Thr346Ser, XP_011537296.1:p.Thr346Ser, XP_011537297.1:p.Thr346Ser, XP_011537298.1:p.Thr346Ser, XP_011537299.1:p.Thr346Ser, rs17571543, rs56973174, rs57488699
A > -
A > T
SNP
T445S
rs3768142 NC_000001.10:g.237028564G>T, NC_000001.11:g.236865264G>T, NG_008959.1:g.74984G>T, NM_000254.2:c.2405+1710G>T, NM_001291939.1:c.2252+1710G>T, NM_001291940.1:c.1184+1710G>T, XM_005273140.1:c.2573+1710G>T, XM_005273141.1:c.2402+1710G>T, XM_005273141.3:c.2402+1710G>T, XM_005273142.1:c.2315+1710G>T, XM_005273143.1:c.2252+1710G>T, XM_005273144.1:c.1967+1710G>T, XM_005273145.1:c.767+1710G>T, XM_006711769.2:c.2405+1710G>T, XM_006711770.1:c.1469+1710G>T, XM_011544193.1:c.2405+1710G>T, XM_011544194.1:c.2573+1710G>T, rs59283581
G > T
SNP
rs3784862 NC_000016.10:g.16017034G=, NC_000016.10:g.16017034G>A, NC_000016.9:g.16110891G>A, NG_028268.1:g.72458G=, NG_028268.1:g.72458G>A, NM_004996.3:c.615+413A>G, NM_004996.3:c.615+413G>A, NT_187607.1:g.1674909A=, NT_187607.1:g.1674909A>G, XM_005255326.1:c.615+413G>A, XM_005255327.1:c.489+2406G>A, XM_005255328.1:c.477+413G>A, XM_005255329.1:c.615+413G>A, XM_011522497.1:c.591+413A>G, XM_011522497.1:c.591+413G>A, XM_011522498.1:c.669+413A>G, XM_011522498.1:c.669+413G>A, rs59892787
G > A
SNP
rs3784864 NC_000016.10:g.16031468G=, NC_000016.10:g.16031468G>A, NC_000016.9:g.16125325G>A, NG_028268.1:g.86892G=, NG_028268.1:g.86892G>A, NM_004996.3:c.616-1641A>G, NM_004996.3:c.616-1641G>A, NT_187607.1:g.1689346A=, NT_187607.1:g.1689346A>G, XM_005255326.1:c.616-1641G>A, XM_005255327.1:c.490-1641G>A, XM_005255328.1:c.478-1641G>A, XM_005255329.1:c.616-1641G>A, XM_011522497.1:c.592-1641A>G, XM_011522497.1:c.592-1641G>A, XM_011522498.1:c.670-1641A>G, XM_011522498.1:c.670-1641G>A, rs17264945, rs56505200, rs58170425
G > A
SNP
rs3787186 NC_000020.10:g.50153344T>C, NC_000020.11:g.51536805T>C, NM_001136021.2:c.71-12695A>G, NM_001258292.1:c.71-12695A>G, NM_001258294.1:c.-13-13209A>G, NM_001258295.1:c.-13-13209A>G, NM_001258296.1:c.-14+5565A>G, NM_001258297.1:c.-14+5565A>G, NM_012340.4:c.130+5565A>G, NM_173091.3:c.130+5565A>G, XM_005260413.1:c.130+5565A>G, XM_011528824.1:c.130+5565A>G, XM_011528825.1:c.71-12695A>G, XM_011528826.1:c.-13-13209A>G, rs56471074, rs56739286, rs61514015
T > C
SNP
rs3805500 NC_000005.10:g.31462870G>A, NC_000005.9:g.31462977G>A, NM_001100412.1:c.2463+1366C>T, NM_013235.4:c.2574+1366C>T, XM_005248291.1:c.2574+1366C>T, XM_005248291.2:c.2574+1366C>T, XM_005248292.1:c.2550+1366C>T, XM_005248292.2:c.2550+1366C>T, XM_005248293.1:c.2481+1366C>T, XM_005248293.2:c.2481+1366C>T, XM_005248294.1:c.2370+1366C>T, XM_005248294.2:c.2370+1366C>T, XM_011514033.1:c.2574+1366C>T, rs386586733
G > A
SNP
rs3821353 NC_000002.11:g.216197779G>T, NC_000002.12:g.215333056G>T, NG_013002.1:g.26101G>T, NM_004044.6:c.815-294G>T
G > T
SNP
rs3824662 NC_000010.10:g.8104208C>A, NC_000010.11:g.8062245C>A, NG_015859.1:g.12542C>A, NM_001002295.1:c.779-1748C>A, NM_002051.2:c.779-1751C>A, XM_005252442.1:c.779-1748C>A, XM_005252442.2:c.779-1748C>A, XM_005252443.1:c.779-1748C>A, XM_005252443.3:c.779-1748C>A, rs11567915
C > A
SNP
rs408626 NC_000005.10:g.80655314T>C, NC_000005.9:g.79951133T>C, NG_016607.1:g.5840T>C, NG_023304.1:g.4668A>G, NM_000791.3:c.-825A>G, NM_001290354.1:c.-931A>G, NM_001290357.1:c.-825A>G, NM_002439.4:c.237+350T>C, NR_110936.1:n.-333A>G, XM_005248455.1:c.-1282A>G, XM_005248456.1:c.-931A>G, rs36231776, rs3776963
T > C
SNP
rs4148396 NC_000010.10:g.101591944T>C, NC_000010.11:g.99832187T>C, NG_011798.1:g.54482T>C, NM_000392.4:c.3258+56T>C, XM_005269536.1:c.2979+56T>C, XM_006717630.2:c.2562+56T>C, XM_011539291.1:c.*573T>C, XR_945604.1:n.3447+56T>C, XR_945605.1:n.3449+56T>C, rs17495225
T > C
SNP
rs4148416 NC_000017.10:g.48753423C>T, NC_000017.11:g.50676062C>T, NM_003786.3:c.3039C>T, NP_003777.2:p.Gly1013=, XM_005257763.1:c.2847C>T, XM_005257763.2:c.2847C>T, XM_011525422.1:c.2952C>T, XM_011525423.1:c.3144C>T, XM_011525424.1:c.2364C>T, XM_011525425.1:c.2313C>T, XP_005257820.1:p.Gly949=, XP_011523724.1:p.Gly984=, XP_011523725.1:p.Gly1048=, XP_011523726.1:p.Gly788=, XP_011523727.1:p.Gly771=, XR_934586.1:n.3237C>T
C > T
SNP
G1013G
rs4148737 NC_000007.13:g.87171152T>C, NC_000007.14:g.87541836T>C, NG_011513.1:g.176413A>G, NM_000927.4:c.2212-372A>G, rs386591482, rs60838665
T > C
SNP
rs4149015 NC_000012.11:g.21283322G>A, NC_000012.12:g.21130388G>A, NG_011745.1:g.4195G>A, NM_006446.4:c.-910G>A
G > A
SNP
rs4149056 NC_000012.11:g.21331549T>C, NC_000012.12:g.21178615T>C, NG_011745.1:g.52422T>C, NM_006446.4:c.521T>C, NP_006437.3:p.Val174Ala, rs52816141, rs60037639
T > C
SNP
V174A
rs4149081 NC_000012.11:g.21378021G>A, NC_000012.12:g.21225087G>A, NG_011745.1:g.98894G>A, NM_006446.4:c.1865+248G>A, rs60942524
G > A
SNP
rs442767 NC_000005.10:g.80655677G>T, NC_000005.9:g.79951496G>T, NG_016607.1:g.6203G>T, NG_023304.1:g.4305C>A, NM_000791.3:c.-1188C>A, NM_001290354.1:c.-1294C>A, NM_001290357.1:c.-1188C>A, NM_002439.4:c.237+713G>T, NR_110936.1:n.-696C>A, XM_005248455.1:c.-1645C>A, XM_005248456.1:c.-1294C>A, rs36231429
G > T
SNP
rs4451422 NC_000009.11:g.130576597A>C, NC_000009.12:g.127814318A>C, NG_009551.1:g.45451T>G, NG_023245.1:g.16444A>C, NM_001018078.2:c.*714A>C, NM_001288803.1:c.*714A>C, NM_004957.5:c.*714A>C, NR_110170.1:n.2526A>C, XM_005251863.1:c.*714A>C, XM_005251864.1:c.*91A>C, XM_005251864.2:c.*91A>C, XM_005251865.1:c.*714A>C, XM_011518437.1:c.*714A>C, XM_011518438.1:c.*714A>C, XM_011518439.1:c.*714A>C, XM_011519273.1:c.-2261A>C, XR_242581.1:n.2356A>C, XR_242581.2:n.2375A>C, XR_242582.1:n.1472A>C, XR_242582.2:n.1491A>C, rs57484472
A > C
SNP
rs45445694 NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], rs34743033 (retired)
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
microsatellite
rs4673993 NC_000002.11:g.216212339T>C, NC_000002.12:g.215347616T>C, NG_013002.1:g.40661T>C, NM_004044.6:c.1503+675T>C, rs17448559, rs58608144
T > C
SNP
rs4781712 NC_000016.10:g.16009375A=, NC_000016.10:g.16009375A>G, NC_000016.9:g.16103232A>G, NG_028268.1:g.64799A=, NG_028268.1:g.64799A>G, NM_004996.3:c.226-401A>G, NM_004996.3:c.226-401G>A, NT_187607.1:g.1667251G=, NT_187607.1:g.1667251G>A, XM_005255326.1:c.226-401A>G, XM_005255327.1:c.226-401A>G, XM_005255328.1:c.226-401A>G, XM_005255329.1:c.226-401A>G, XM_011522497.1:c.202-401A>G, XM_011522497.1:c.202-401G>A, XM_011522498.1:c.280-401A>G, XM_011522498.1:c.280-401G>A, rs17264542, rs58943181
A > G
SNP
rs4818789 NC_000021.8:g.46948827G>T, NC_000021.9:g.45528913G>T, NG_028278.1:g.18559C>A, NM_001205206.1:c.1151+1857C>A, NM_001205207.1:c.1031+1857C>A, NM_194255.2:c.1151+1857C>A, XM_005261163.1:c.1151+1857C>A, XM_005261164.1:c.797+1857C>A, XM_005261164.2:c.797+1857C>A, XM_011529696.1:c.1442+1857C>A, XM_011529697.1:c.1442+1857C>A, XM_011529698.1:c.1217+1857C>A, XM_011529699.1:c.1178+1857C>A, XM_011529700.1:c.1151+1857C>A, XM_011529701.1:c.1151+1857C>A, XM_011529702.1:c.1151+1857C>A, XM_011529703.1:c.1151+1857C>A, XM_011529704.1:c.1151+1857C>A, XM_011529705.1:c.1442+1857C>A, XM_011529706.1:c.1013+1857C>A, XM_011529707.1:c.1442+1857C>A, XM_011529708.1:c.1151+1857C>A, XM_011529709.1:c.797+1857C>A, XM_011529710.1:c.797+1857C>A, rs58521338
G > T
SNP
rs4819128 NC_000021.8:g.46949649C>T, NC_000021.9:g.45529735C>T, NG_028278.1:g.17737G>A, NM_001205206.1:c.1151+1035G>A, NM_001205207.1:c.1031+1035G>A, NM_194255.2:c.1151+1035G>A, XM_005261163.1:c.1151+1035G>A, XM_005261164.1:c.797+1035G>A, XM_005261164.2:c.797+1035G>A, XM_011529696.1:c.1442+1035G>A, XM_011529697.1:c.1442+1035G>A, XM_011529698.1:c.1217+1035G>A, XM_011529699.1:c.1178+1035G>A, XM_011529700.1:c.1151+1035G>A, XM_011529701.1:c.1151+1035G>A, XM_011529702.1:c.1151+1035G>A, XM_011529703.1:c.1151+1035G>A, XM_011529704.1:c.1151+1035G>A, XM_011529705.1:c.1442+1035G>A, XM_011529706.1:c.1013+1035G>A, XM_011529707.1:c.1442+1035G>A, XM_011529708.1:c.1151+1035G>A, XM_011529709.1:c.797+1035G>A, XM_011529710.1:c.797+1035G>A, rs111154961, rs111213124, rs36138260, rs58322235
C > T
SNP
rs4846051 NC_000001.10:g.11854457G>A, NC_000001.11:g.11794400G>A, NG_013351.1:g.16704C>T, NM_005957.4:c.1305C>T, NP_005948.3:p.Phe435=, XM_005263458.1:c.1428C>T, XM_005263458.2:c.1428C>T, XM_005263459.1:c.1374C>T, XM_005263460.1:c.1305C>T, XM_005263460.3:c.1305C>T, XM_005263461.1:c.1305C>T, XM_005263461.3:c.1305C>T, XM_005263462.1:c.1305C>T, XM_005263462.3:c.1305C>T, XM_005263463.1:c.1059C>T, XM_005263463.2:c.1059C>T, XM_011541495.1:c.1425C>T, XM_011541496.1:c.1428C>T, XP_005263515.1:p.Phe476=, XP_005263516.1:p.Phe458=, XP_005263517.1:p.Phe435=, XP_005263518.1:p.Phe435=, XP_005263519.1:p.Phe435=, XP_005263520.1:p.Phe353=, XP_011539797.1:p.Phe475=, XP_011539798.1:p.Phe476=, rs17854810, rs57431061
G > A
SNP
F435F
rs4867329 NC_000005.10:g.31435520A>C, NC_000005.9:g.31435627A>C, NM_001100412.1:c.2931+245T>G, NM_013235.4:c.3042+245T>G, XM_005248291.1:c.3042+245T>G, XM_005248291.2:c.3042+245T>G, XM_005248292.1:c.3018+245T>G, XM_005248292.2:c.3018+245T>G, XM_005248293.1:c.2949+245T>G, XM_005248293.2:c.2949+245T>G, XM_005248294.1:c.2838+245T>G, XM_005248294.2:c.2838+245T>G, XM_011514033.1:c.3042+245T>G, rs17485775
A > C
SNP
rs4880 NC_000006.11:g.160113872A>G, NC_000006.12:g.159692840A>G, NG_008729.1:g.5482T>C, NM_000636.2:c.47T>C, NM_001024465.1:c.47T>C, NM_001024466.1:c.47T>C, NP_000627.2:p.Val16Ala, NP_001019636.1:p.Val16Ala, NP_001019637.1:p.Val16Ala, rs1141717, rs11551083, rs116851270, rs17362379, rs17405198, rs17856520, rs1799725, rs3205539, rs386596107
A > G
SNP
V16A
rs4888024 NC_000016.10:g.79405477A>G, NC_000016.9:g.79439374A>G, XM_011523084.1:c.*28+180403T>C, rs17655371, rs59573204
A > G
SNP
rs4909237
C > A
C > T
SNP
rs4948496 NC_000010.10:g.63805617T>C, NC_000010.11:g.62045858T>C, NG_030027.1:g.149605T>C, NM_032199.2:c.734-5030T>C, XM_005270215.1:c.479-5030T>C, XM_011540262.1:c.503-5030T>C, rs17288843, rs58586872
T > C
SNP
rs4982133 NC_000014.8:g.34526819A>C, NC_000014.9:g.34057613A>C, XR_429348.2:n.460+34708T>G, XR_943736.1:n.253-1519A>C, rs59135361
A > C
SNP
rs4986790 NC_000009.11:g.120475302A>G, NC_000009.12:g.117713024A>G, NG_011475.1:g.13843A>G, NM_003266.3:c.776A>G, NM_138554.3:c.896A>G, NM_138554.4:c.896A>G, NM_138557.2:c.296A>G, NP_003257.1:p.Asp259Gly, NP_612564.1:p.Asp299Gly, NP_612567.1:p.Asp99Gly, XM_005252182.1:c.890A>G, XP_005252239.1:p.Asp297Gly, rs52820966, rs59093760
A > G
SNP
D259G
rs56103835 NC_000014.8:g.101522556T>C, NC_000014.9:g.101056219T>C, NR_036133.1:n.1T>C
T > A
T > C
SNP
rs56292801
G > A
SNP
rs5751876 NC_000022.10:g.24837301T>C, NC_000022.11:g.24441333T>C, NM_000675.5:c.1083T>C, NM_001278497.1:c.1083T>C, NM_001278498.1:c.1083T>C, NM_001278499.1:c.1083T>C, NM_001278500.1:c.1083T>C, NP_000666.2:p.Tyr361=, NP_001265426.1:p.Tyr361=, NP_001265427.1:p.Tyr361=, NP_001265428.1:p.Tyr361=, NP_001265429.1:p.Tyr361=, NR_028483.2:n.1270+659A>G, NR_028484.2:n.833+659A>G, NR_103543.1:n.936T>C, NR_103544.1:n.916T>C, NR_103546.1:n.5262T>C, rs17851062
T > -
T > C
SNP
Y361Y
rs5760410 NC_000022.10:g.24815406G>A, NC_000022.11:g.24419438G>A, NG_031915.2:g.153617G>A, NR_103546.1:n.3905+4694G>A, rs7284907
G > A
SNP
rs595961 NC_000001.10:g.36367780A>G, NC_000001.11:g.35902179A>G, NM_001317122.1:c.1264-25A>G, NM_001317123.1:c.1039-25A>G, NM_012199.4:c.1264-25A>G, XM_005270746.1:c.1246-25A>G, XM_005270747.1:c.1039-25A>G, XM_011541236.1:c.1273-25A>G, XM_011541237.1:c.1048-25A>G, XM_011541238.1:c.1039-25A>G, XM_011541239.1:c.820-25A>G, rs59876085
A > G
SNP
rs6064463 NC_000020.10:g.55480277T>C, NC_000020.11:g.56905221T>C, rs59614919
T > C
SNP
rs6123048 NC_000020.10:g.50147400A>G, NC_000020.11:g.51530861A>G, NM_001136021.2:c.71-6751T>C, NM_001258292.1:c.71-6751T>C, NM_001258294.1:c.-13-7265T>C, NM_001258295.1:c.-13-7265T>C, NM_001258296.1:c.-13-7265T>C, NM_001258297.1:c.-13-7265T>C, NM_012340.4:c.131-6751T>C, NM_173091.3:c.131-6751T>C, XM_005260413.1:c.131-6754T>C, XM_011528824.1:c.131-6751T>C, XM_011528825.1:c.71-6751T>C, XM_011528826.1:c.-13-7265T>C, rs59847809
A > G
SNP
rs61886492 NC_000011.10:g.49164722G>A, NC_000011.9:g.49186274G>A, NG_029170.1:g.48949C>T, NM_001014986.1:c.1423C>T, NM_001193471.1:c.1378C>T, NM_001193472.1:c.1378C>T, NM_001193473.1:c.499C>T, NM_004476.1:c.1423C>T, NP_001014986.1:p.His475Tyr, NP_001180400.1:p.His460Tyr, NP_001180401.1:p.His460Tyr, NP_001180402.1:p.His167Tyr, NP_004467.1:p.His475Tyr, XM_005252839.1:c.919C>T, XM_011519958.1:c.1378C>T, XP_005252896.1:p.His307Tyr, XP_011518260.1:p.His460Tyr
G > A
SNP
H475Y
rs639174 NC_000005.10:g.31433540C>T, NC_000005.9:g.31433647C>T, NM_001100412.1:c.2932-1862G>A, NM_013235.4:c.3043-1862G>A, XM_005248291.1:c.3043-1862G>A, XM_005248291.2:c.3043-1862G>A, XM_005248292.1:c.3019-1862G>A, XM_005248292.2:c.3019-1862G>A, XM_005248293.1:c.2950-1862G>A, XM_005248293.2:c.2950-1862G>A, XM_005248294.1:c.2839-1862G>A, XM_005248294.2:c.2839-1862G>A, XM_011514033.1:c.3043-1862G>A, rs57933113
C > T
SNP
rs6497759 NC_000016.10:g.24790416G>A, NC_000016.9:g.24801737G>A, NM_014494.2:c.1774G>A, NP_055309.2:p.Ala592Thr, XM_005255253.1:c.1678G>A, XM_005255254.1:c.1774G>A, XM_005255254.2:c.1774G>A, XM_005255255.1:c.1678G>A, XM_005255256.1:c.1678G>A, XM_005255257.1:c.1015G>A, XM_005255257.3:c.1015G>A, XM_006721039.2:c.1348G>A, XM_011545791.1:c.1774G>A, XM_011545792.1:c.1774G>A, XM_011545793.1:c.1774G>A, XM_011545794.1:c.1774G>A, XM_011545795.1:c.1774G>A, XM_011545796.1:c.1774G>A, XP_005255310.1:p.Ala560Thr, XP_005255311.1:p.Ala592Thr, XP_005255312.1:p.Ala560Thr, XP_005255313.1:p.Ala560Thr, XP_005255314.1:p.Ala339Thr, XP_006721102.1:p.Ala450Thr, XP_011544093.1:p.Ala592Thr, XP_011544094.1:p.Ala592Thr, XP_011544095.1:p.Ala592Thr, XP_011544096.1:p.Ala592Thr, XP_011544097.1:p.Ala592Thr, XP_011544098.1:p.Ala592Thr, rs52832662, rs59562937
G > A
SNP
A592T
rs6505162 NC_000017.10:g.28444183A>C, NC_000017.11:g.30117165A>C, NM_001261467.1:c.-49+302A>C, NM_032141.3:c.20+302A>C, NR_029945.1:n.87A>C, NR_036149.1:n.-5T>G, XM_005258042.1:c.20+302A>C, XM_011525345.1:c.21-137A>C, XR_934651.1:n.682+227T>G, rs56453081, rs61093106
A > C
A > T
SNP
rs6506569 NC_000018.10:g.8275859T>C, NC_000018.9:g.8275857T>C, NM_001105244.1:c.2755-20509T>C, NM_002845.3:c.2716-20509T>C, XM_005258128.1:c.2077-20509T>C, XM_006722335.2:c.2791-20509T>C, XM_006722337.2:c.2716-20509T>C, XM_011525708.1:c.2830-20509T>C, XM_011525709.1:c.2818-20509T>C, XM_011525710.1:c.2830-20509T>C, XM_011525711.1:c.2818-20509T>C, XM_011525712.1:c.2755-20509T>C, XM_011525713.1:c.2644-20509T>C, XM_011525714.1:c.2626-20509T>C, XM_011525715.1:c.2191-20509T>C, XM_011525716.1:c.2077-20509T>C, XM_011525717.1:c.1693-20509T>C, XM_011525722.1:c.2116-20509T>C, XR_430046.2:n.3101-20509T>C, rs59608859
T > C
SNP
rs66554220 unknown
rs6920220 NC_000006.11:g.138006504G>A, NC_000006.12:g.137685367G>A, rs17264367, rs56495515, rs57269942, rs58273351
G > A
SNP
rs70991108 NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT, NC_000005.9:g.79950163_79950164insTGGCGCGTCCCGCCCAGGT, NG_016607.1:g.4870_4871insTGGCGCGTCCCGCCCAGGT, NG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCCA, NM_000791.3:c.86+59_86+60insACCTGGGCGGGACGCGCCA, NM_001290354.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA, NM_001290357.1:c.86+59_86+60insACCTGGGCGGGACGCGCCA, NM_002439.4:c.-384_-383insTGGCGCGTCCCGCCCAGGT, NR_110936.1:n.578+59_578+60insACCTGGGCGGGACGCGCCA, XM_005248455.1:c.-313_-312insACCTGGGCGGGACGCGCCA, XM_005248456.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA, rs147334155
- > TGGCGCGTCCCGCCCAGGT
indel
rs7142143 NC_000014.8:g.51403531T>C, NC_000014.9:g.50936813T>C, NG_012796.1:g.12718A>G, NM_001163940.1:c.244-1628A>G, NM_002863.3:c.345+923A>G, NM_002863.4:c.345+923A>G, rs111177964, rs57811686
T > C
SNP
rs717620 NC_000010.10:g.101542578C>T, NC_000010.11:g.99782821C>T, NG_011798.1:g.5116C>T, NM_000392.4:c.-24C>T, XM_005269536.1:c.-24C>T, XM_006717631.2:c.-24C>T, XM_011539291.1:c.-24C>T, XR_945604.1:n.166C>T, XR_945605.1:n.168C>T, rs17216163, rs386485129, rs58371376
C > T
SNP
rs719235 NC_000008.10:g.63951681C>A, NC_000008.11:g.63039122C>A, NG_028126.1:g.4930G>T, NM_003878.2:c.-354G>T, XM_011517623.1:c.-354G>T, rs3758150, rs58005468
C > A
SNP
rs7270101 NC_000020.10:g.3193893A>C, NC_000020.11:g.3213247A>C, NG_012093.1:g.8838A>C, NM_001267623.1:c.67-738A>C, NM_033453.3:c.124+21A>C, NM_181493.2:c.73+21A>C, NR_052000.1:n.224+21A>C, NR_052001.1:n.49-11A>C, NR_052002.1:n.316+21A>C, XM_006723564.2:c.124+21A>C, XM_006723565.2:c.67-738A>C, XM_011529234.1:c.124+21A>C, XM_011529235.1:c.124+21A>C
A > C
SNP
rs7279445 NC_000021.8:g.46919918C>T, NC_000021.9:g.45500004C>T, NG_011903.1:g.99822C>T, NM_030582.3:c.3223+2343C>T, NM_130444.2:c.3928+2343C>T, NM_130445.2:c.2683+2343C>T, NM_130445.3:c.2683+2343C>T, XM_005261178.1:c.3223+2343C>T, XM_005261179.1:c.3187+2343C>T, XM_005261180.1:c.3124+2343C>T, XM_005261181.1:c.2683+2343C>T, XM_005261182.1:c.2659+2343C>T, rs56456884, rs60261684, rs60932654
C > T
SNP
rs7301582
C > T
SNP
rs7317112 NC_000013.10:g.95923523A>G, NC_000013.11:g.95271269A>G, NM_001105515.2:c.75-23516T>C, NM_001301829.1:c.75-23516T>C, NM_001301830.1:c.75-23516T>C, NM_005845.4:c.75-23516T>C, XM_005254025.2:c.-2168T>C, XM_005254026.1:c.75-23516T>C, XM_005254027.1:c.75-23516T>C, XM_005254028.1:c.75-23516T>C, XM_006719914.1:c.75-23516T>C, rs56448869, rs57356558, rs60109691
A > G
SNP
rs7387 NC_000005.10:g.80628972T>A, NC_000005.9:g.79924791T>A, NG_023304.1:g.31010A>T, NM_000791.3:c.*115A>T, NM_001290354.1:c.*115A>T, NM_001290357.1:c.*173A>T, NR_110936.1:n.994A>T, XM_005248455.1:c.*115A>T, XM_005248456.1:c.*115A>T, rs1643633, rs3202536
T > -
T > A
SNP
rs747199 NC_000006.11:g.44194345G>C, NC_000006.12:g.44226608G>C, NG_042893.1:g.12104G>C, NM_001078174.1:c.-54-652G>C, NM_001078175.2:c.-52+441G>C, NM_001078176.2:c.-51-655G>C, NM_001078177.1:c.-55+441G>C, NM_001304462.1:c.187-655G>C, NM_001304463.1:c.76-655G>C, NM_001304465.1:c.25-652G>C, NM_001304466.1:c.25-655G>C, NM_004955.2:c.-51-655G>C, XM_005248875.1:c.187-655G>C, XM_005248876.1:c.76-652G>C, XM_005248876.3:c.76-652G>C, XM_005248877.1:c.76-655G>C, XM_005248878.1:c.-52+441G>C, XM_005248878.3:c.-52+441G>C, XM_005248879.1:c.-52+441G>C, XM_005248879.3:c.-52+441G>C, XM_005248880.1:c.-55+441G>C, XM_005248880.3:c.-55+441G>C, XM_005248881.1:c.-483G>C, XM_005248881.3:c.-483G>C, XM_005248882.1:c.-486G>C, XM_005248882.3:c.-486G>C, XM_011514341.1:c.187-652G>C, rs3799961
G > C
SNP
rs7499 NC_000021.8:g.46932328G>A, NC_000021.9:g.45512414G>A, NG_011903.1:g.112223G>A, NM_030582.3:c.*16G>A, NM_130444.2:c.*16G>A, NM_130445.2:c.*16G>A, NM_130445.3:c.*16G>A, XM_005261178.1:c.*16G>A, XM_005261179.1:c.*16G>A, XM_005261180.1:c.*16G>A, XM_005261181.1:c.*16G>A, XM_005261182.1:c.*16G>A, XM_011529707.1:c.1585-9445C>T, rs3190718, rs61437544
G > A
SNP
rs7563206 NC_000002.11:g.216190654C>T, NC_000002.12:g.215325931C>T, NG_013002.1:g.18976C>T, NM_004044.6:c.380-56C>T, rs17447642, rs60588287
C > T
SNP
rs7624766 NC_000003.11:g.160429869A>G, NC_000003.12:g.160712081A>G, rs10288868, rs57928390
A > G
SNP
rs79085477 NC_000020.10:g.55701215C>T, NC_000020.11:g.57126159C>T, XR_936901.1:n.278+5836G>A, XR_936902.1:n.89+350G>A, XR_936903.1:n.48+399G>A, XR_936904.1:n.278+5836G>A
C > T
SNP
rs7911488 NC_000010.10:g.105154089A>G, NC_000010.11:g.103394332A>G, NM_001206426.1:c.-9-1866T>C, NM_001206427.1:c.-10+1414T>C, NM_032747.3:c.-143T>C, NR_031707.1:n.70T>C
A > -
A > G
SNP
rs7992226 NC_000013.10:g.101797840A>G, NC_000013.11:g.101145489A>G, NM_052867.2:c.1840-593T>C, XM_005254037.1:c.1840-593T>C, XM_011521067.1:c.1897-593T>C, XM_011521068.1:c.1840-593T>C, XM_011521069.1:c.1810-593T>C, XM_011521070.1:c.1897-20808T>C, rs17582066, rs57809036
A > G
SNP
rs80223967 NC_000001.10:g.213943679A>G, NC_000001.11:g.213770336A>G, XR_922586.1:n.137-24048A>G, XR_922587.1:n.136+38778A>G
A > G
SNP
rs8058040 NC_000016.10:g.16013855A>G, NC_000016.9:g.16107712A>G, NG_028268.1:g.69279A>G, NM_004996.3:c.352-636A>G, NT_187607.1:g.1671731A>G, XM_005255326.1:c.352-636A>G, XM_005255327.1:c.352-636A>G, XM_005255328.1:c.352-2641A>G, XM_005255329.1:c.352-636A>G, XM_011522497.1:c.328-636A>G, XM_011522498.1:c.406-636A>G, rs56942501
A > G
SNP
rs8090560 NC_000018.10:g.79453155G>A, NC_000018.9:g.77213155G>A, NG_029226.1:g.62384G>A, NM_001278669.1:c.1903+1339G>A, NM_001278670.1:c.1903+1339G>A, NM_001278672.1:c.1864+1339G>A, NM_001278673.1:c.487+1339G>A, NM_001278675.1:c.1864+1339G>A, NM_006162.4:c.1903+1339G>A, NM_172387.2:c.1864+1339G>A, NM_172388.2:c.487+1339G>A, NM_172389.2:c.1864+1339G>A, NM_172390.2:c.1903+1339G>A, XM_005266701.1:c.1870+1339G>A, XM_005266702.1:c.1903+1339G>A, rs60596973
G > A
SNP
rs8187710 NC_000010.10:g.101611294G>A, NC_000010.11:g.99851537G>A, NG_011798.1:g.73832G>A, NM_000392.4:c.4544G>A, NP_000383.1:p.Cys1515Tyr, XM_005269536.1:c.4265G>A, XM_006717630.2:c.3848G>A, XP_005269593.1:p.Cys1422Tyr, XP_006717693.1:p.Cys1283Tyr, XR_945605.1:n.4608G>A, rs17222568, rs52804507, rs58135906
G > A
SNP
C1515Y
rs868755 NC_000007.13:g.87189930T>G, NC_000007.14:g.87560614T>G, NG_011513.1:g.157635A>C, NM_000927.4:c.827+649A>C, rs10358632, rs386618038
T > G
SNP
rs868853 NC_000013.10:g.95955076C>T, NC_000013.11:g.95302822C>T, NM_001105515.2:c.-1508G>A, NM_001301829.1:c.-1508G>A, NM_001301830.1:c.-1508G>A, NM_005845.4:c.-1508G>A, XM_005254026.1:c.-1508G>A, XM_005254027.1:c.-1508G>A, XM_005254028.1:c.-1508G>A, XM_006719914.1:c.-1508G>A, XR_429273.2:n.1009+496C>T, XR_931650.1:n.752+757C>T, rs386618045, rs57110980
C > T
SNP
rs9344 NC_000011.10:g.69648142G>A, NC_000011.9:g.69462910G>A, NG_007375.1:g.12038G>A, NM_053056.2:c.723G>A, NP_444284.1:p.Pro241=, XM_006718653.2:c.747G>A, XP_006718716.1:p.Pro249=, rs1131451, rs11557586, rs17295377, rs17349816, rs17359282, rs17852153, rs2227951, rs3191361, rs59807553, rs603965
G > A
SNP
P241P
rs9345389 NC_000006.11:g.94440604A>G, NC_000006.12:g.93730886A>G, NR_015362.1:n.1869-5735A>G, XR_241850.1:n.1869-5735A>G, XR_241851.1:n.2011-1109A>G, XR_241852.1:n.2084-5735A>G, rs58119272
A > G
SNP
rs9516519 NC_000013.10:g.95672457T>G, NC_000013.11:g.95020203T>G, NM_001301829.1:c.*1372A>C, NM_005845.4:c.*1372A>C, XM_005254025.1:c.*1372A>C, XM_005254025.2:c.*1372A>C, XM_005254026.1:c.*1372A>C, XM_005254027.1:c.*1372A>C, XM_006719914.1:c.*1372A>C, XM_011521047.1:c.*1372A>C, rs17189278
T > G
SNP
rs9611280 NC_000022.10:g.40552119G>A, NC_000022.11:g.40156115G>A, NM_001024843.1:c.46G>A, NP_001020014.1:p.Val16Met, XM_005261393.1:c.46G>A, XM_005261394.1:c.46G>A, XP_005261450.1:p.Val16Met, XP_005261451.1:p.Val16Met, rs52808489, rs61442552
G > A
SNP
V16M
rs9895420 NC_000017.10:g.48712038T>A, NC_000017.11:g.50634677T>A, NM_001144070.1:c.-260T>A, NM_003786.3:c.-260T>A, XM_005257763.1:c.-260T>A, XM_005257763.2:c.-260T>A, XM_011525422.1:c.-260T>A, XM_011525423.1:c.-260T>A, XR_934586.1:n.-167T>A, rs59559322
T > A
SNP
rs9977268 NC_000021.8:g.46907287C>T, NC_000021.9:g.45487373C>T, NG_011903.1:g.87191C>T, NM_030582.3:c.2374-74C>T, NM_130444.2:c.3079-74C>T, NM_130445.2:c.1834-74C>T, NM_130445.3:c.1834-74C>T, XM_005261178.1:c.2374-74C>T, XM_005261179.1:c.2374-74C>T, XM_005261180.1:c.2275-74C>T, XM_005261181.1:c.1834-74C>T, XM_005261182.1:c.1810-74C>T
C > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
  • Amethopterin
  • Amethopterine
  • HDMTX
  • L-Amethopterin
  • MTX
  • Methopterin
  • Methotextrate
  • Methotrexat
  • Methotrexate Sodium
  • Methylaminopterin
  • Methylaminopterinum
  • N-Bismethylpteroylglutamic Acid
Trade Names
  • Abitrexate
  • Antifolan
  • Arbitrexate
  • Emtexate
  • Folex
  • Ledertrexate
  • Metatrexan
  • Methotrate
  • Mexate
  • Rheumatrex
  • Trexall
Brand Mixture Names

PharmGKB Accession Id

PA450428

Type(s):

Drug

Description

An antineoplastic antimetabolite with immunosuppressant properties. It is an inhibitor of tetrahydrofolate dehydrogenase and prevents the formation of tetrahydrofolate, necessary for synthesis of thymidylate, an essential component of DNA.

Source: Drug Bank

Pharmacogenetics

Pharmacokinetics

Methotrexate is polyglutamated by FPGS, and this aids retention within the cell [Articles:10029597, 12494465, 17875718, 18381794]. This can be reversed by GGH, allowing efflux [Articles:11389096, 14597182, 17286537, 17409534, 19016697, 19827168] (see Methotrexate Pathway, Pharmacokinetics). Absorption of dietary folates may be affected by FOLH1 [Article:12204797]; however, to our knowledge, this has not been tested for Methotrexate.

Variants in FPGS [Articles:19902562, 19131550] and GGH [Articles:15564880, 15284538, 19093297] may affect Methotrexate response.

Transport

Methotrexate can be transported into cells by reduced folate carrier, SLC19A1 [Article:19538530], SLC46A1 [Article:19403800], FOLR1 [Article:19093297], SLC22A11 [Article:11327718], SLC22A6 [Article:20460822], SLC22A8 [Article:20460822], SLCO1B1 [Article:19901119] or SLCO1A2 [Article:16702441].

Efflux can occur via ABCB1 [Articles:8598312, 20233511], ABCC1 [Articles:11585759, 10363967], ABCC2 [Article:10363967], ABCC3 [Article:11585759], ABCC4 [Article:12036927], ABCC11 [Article:15537867] or ABCG2 [Articles:12208758, 12874005].

Variants in SLC19A1 ([Articles:19827168, 12411325, 15457444]; see SLC19A1 VIP for further details), SLCO1B1 [Article:19901119], ABCB1 [Article:20136356] (not significant after correction), and ABCG2 [Article:20386493] are associated with methotrexate response. Variants in ABCG2 [Articles:12208758, 12874005] are associated with methotrexate resistance.

Pharmacodynamics

Methotrexate is an analogue of reduced folate that targets endogenous cellular folate metabolism. At the high doses given in the treatment of neoplasms, its primary mechanism of action is via disruption of purine and pyrimidine synthesis [Article:19538530]. At low doses, such as those used for inflammatory disease treatment or for continuation therapy for leukemia, its action likely occurs via accumulation of adenosine and through affects on cellular proliferation and cytokine expression [Article:18045808]. The main intracellular target of methotrexate is DHFR, although glutamated metabolites also inhibit TYMS, PPAT, GART and ATIC, influencing flux through the folate pathway and de novo purine synthesis [Articles:12084458, 14529544]. Genes involved in the downstream effects include SHMT1, MTHFD1, MTHFR, MTHFS, ADA, MTR, MTRR and CBS [Article:14647408] (see Methotrexate Pathway (Cancer Cell), Pharmacodynamics for more details).

Variants in TYMS ([Article:14647408]; also see TYMS VIP), DHFR ([Article:19538530]; also see DHFR VIP), (MTHFR [Articles:19538530, 15797993, 14647408]; also see MTHFR VIP), MTR, MTRR [Article:15797993], SHMT1 [Article:15797993], MTHFD1 [Article:14647408], NOS3 [Article:14647408], CBS [Article:14647408] and CCND1 [Article:12972956] are associated with methotrexate response in the treatment of cancer. In treatment of inflammatory diseases, variants of MTR [Article:17611986], TLR4 ([rs4986790]) [Article:20136356] (not significant after correction), (ATIC [Articles:16947783, 15457444], but [Article:19016697] found no effect), AMPD1 [Articles:16947783, 20386493], ADA [Article:19902562] (not significant after correction) and ADORA2A ([Article:18539621] but [Article:19902562] not significant after correction), HLA-G [Article:16906016] and ITPA [Article:16947783] are associated with methotrexate responses.

Source: PharmGKB

Indication

For the treatment of gestational choriocarcinoma, chorioadenoma destruens and hydatidiform mole. Also for the treatment of severe psoriasis and severe, active, classical or definite rheumatoid arthritis.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

Methotrexate anti-tumor activity is a result of the inhibition of folic acid reductase, leading to inhibition of DNA synthesis and inhibition of cellular replication. The mechanism involved in its activity against rheumatoid arthritis is not known.

Source: Drug Bank

Pharmacology

Methotrexate is an antineoplastic anti-metabolite. Anti-metabolites masquerade as purine or pyrimidine - which become the building blocks of DNA. They prevent these substances becoming incorporated in to DNA during the "S" phase (of the cell cycle), stopping normal development and division. Methotrexate inhibits folic acid reductase which is responsible for the conversion of folic acid to tetrahydrofolic acid. At two stages in the biosynthesis of purines and at one stage in the synthesis of pyrimidines, one-carbon transfer reactions occur which require specific coenzymes synthesized in the cell from tetrahydrofolic acid. Tetrahydrofolic acid itself is synthesized in the cell from folic acid with the help of an enzyme, folic acid reductase. Methotrexate looks a lot like folic acid to the enzyme, so it binds to it quite strongly and inhibits the enzyme. Thus, DNA synthesis cannot proceed because the coenzymes needed for one-carbon transfer reactions are not produced from tetrahydrofolic acid because there is no tetrahydrofolic acid. Methotrexate selectively affects the most rapidly dividing cells (neoplastic and psoriatic cells). Methotrexate is also indicated in the management of severe, active, classical, or definite rheumatoid arthritis.

Source: Drug Bank

Food Interaction

Take without regard to meals. Limit caffeine intake.|Milk appears to reduce its absorption.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Hepatic.

Source: Drug Bank

Protein Binding

50%, primarily to albumin

Source: Drug Bank

Absorption

Generally well absorbed with a mean bioavailability of about 60%.

Source: Drug Bank

Half-Life

Low doses: 3 to 10 hours; High doses: 8 to 15 hours.

Source: Drug Bank

Toxicity

Symptoms of overdose include bone marrow suppression and gastrointestinal toxicity. LD ~50~=43mg/kg(orally in rat).

Source: Drug Bank

Route of Elimination

With IV administration, 80% to 90% of the administered dose is excreted unchanged in the urine within 24 hours. There is limited biliary excretion amounting to 10% or less of the administered dose.

Source: Drug Bank

Volume of Distribution

* 0.4 to 0.8 L/kg

Source: Drug Bank

Chemical Properties

Chemical Formula

C20H22N8O5

Source: Drug Bank

Isomeric SMILES

CN(Cc1cnc2c(n1)c(nc(n2)N)N)c3ccc(cc3)C(=O)NC(CCC(=O)O)C(=O)O

Source: OpenEye

Canonical SMILES

CN(CC1=CN=C2N=C(N)N=C(N)C2=N1)C1=CC=C(C=C1)C(=O)N[C@@H](CCC(O)=O)C(O)=O

Source: Drug Bank

Average Molecular Weight

454.4393

Source: Drug Bank

Monoisotopic Molecular Weight

454.171315854

Source: Drug Bank

SMILES

CN(CC1=CN=C2N=C(N)N=C(N)C2=N1)C1=CC=C(C=C1)C(=O)N[C@@H](CCC(O)=O)C(O)=O

Source: Drug Bank

InChI String

InChI=1S/C20H22N8O5/c1-28(9-11-8-23-17-15(24-11)16(21)26-20(22)27-17)12-4-2-10(3-5-12)18(31)25-13(19(32)33)6-7-14(29)30/h2-5,8,13H,6-7,9H2,1H3,(H,25,31)(H,29,30)(H,32,33)(H4,21,22,23,26,27)/t13-/m0/s1

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Model non-tissue specific cancer cell displaying candidate genes which may be involved in the pharmacodynamics of antimetabolite drugs acting on the folate cycle.
  1. Ibuprofen Pathway, Pharmacokinetics
    Stylized diagram of metabolism and transport of ibuprofen in the liver and kidney.
  1. Methotrexate Pathway (Brain Cell), Pharmacokinetics
    Representation of transport and exchange of methotrexate in the brain.
  1. Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Methotrexate cellular disposition and effects.
  1. Methotrexate Pathway, Pharmacokinetics
    Diagramatic representation of uptake, transport and elimination of methotrexate.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

EvidenceGene
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
microRNA 5189
ABCB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB11
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC11
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC2
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC3
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC5
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCG2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABL1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABLIM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ADA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADCY8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADORA1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ADORA2A
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
ADORA2A-AS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADORA2B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADORA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADRA1D
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADRA2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADRB2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ADSL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AFF3
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
AGO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AHCY
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ALDH1L1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ALPL
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
AMPD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AMT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ANKRD12
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ANPEP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AOX1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AP1S2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AP2B1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APEX1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APOB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APOE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ARF4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ARFGAP3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ARHGAP5
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ARID5B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ARL4C
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ASNS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ATF1
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ATIC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ATM
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ATP5E
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ATRN
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AZU1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
B2M
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BAX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCL2L11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BGLAP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BMI1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BMP1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
BMP7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRS3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BYSL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C10orf11
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
C18orf56
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
C1orf167
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
C5orf22
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C9orf47
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C9orf72
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CAMP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CBR3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CBS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CCNA1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CCND1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD14
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD1B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD226
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD33
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD52
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD97
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDC20
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CDK9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKL1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKN1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CEP72
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CGB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CHST1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CKS2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CLCN6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CLK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CNOT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CNOT8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CNTN5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CNTNAP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
COL18A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
COMT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CREB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CREBBP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CRHR1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CRYZ
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CSH2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CST7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CTSG
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CTSL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CUL4B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP1A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP1B1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2B6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C19
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2D6
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP3A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP3A5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP3A7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP4F2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DAPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DARS
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
DDX20
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DEFA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DEFA4
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
DHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DHPS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DNMT1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
DOK5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DPYD
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DPYSL2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DRD4
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
DROSHA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DSG1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
E2F1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EFNB2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EFR3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EGFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EIF4A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ELANE
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ENG
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EPHA5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERBB2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERCC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ERCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERCC5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ETV5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ETV6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EYA4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FAM168B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FAM175B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FAM3C
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FASTKD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR2B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR3B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGF9
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FGFR4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FHOD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FLNA
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FOLH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
FOLR1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FOLR2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FOLR3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FPGS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FRK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FTH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FZD2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FZD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FZD6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
G6PD
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GALNT7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
GART
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GATA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GBE1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GBF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GBP6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GCH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GCHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GDF10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GDF11
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GEMIN4
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GGH
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GJA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GMPS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GNG10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GOLGA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GPR137B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GRIA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GSS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GSTM1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GSTP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GSTT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GZMM
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
H3F3B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HAMP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HAS3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HAT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HDAC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HDAC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HHEX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HIC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-C
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-DQB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-DRB1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
HLA-E
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
HLA-G
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HPRT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IAPP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ICAM3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IFNL3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IGFBP4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IKZF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL10RA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL10RB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL15
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL17F
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL1B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL1R1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL1RL1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL1RN
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IMPA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IMPDH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IMPDH2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ITGAL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ITGAX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ITGB2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ITPA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
JRKL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
JUN
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KATNB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KDM5D
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIAA1467
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIF3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KIR2DL2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DS4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIT
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KLC3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
KLRC1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
KLRD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KMT2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KRAS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KRT83
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LCN2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LDLR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LEPR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
LINC00251
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LRRC37A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LST1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LTA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAN2B2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAP2K6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAPT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MCCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MCPH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ME2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MGMT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MGST3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MICA
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR1206
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR1307
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR146A
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR2053
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR300
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR423
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR449B
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR492
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR577
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR595
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR604
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MIR618
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MOB3B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MPHOSPH9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MPO
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MRPL33
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MSH3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTHFD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTHFD2
MTHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTOR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTRR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MUSK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYH15
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYLK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAIP
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NALCN
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAT2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NBPF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NFATC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NFATC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NKG7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NMT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NNMT
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NOS3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NPFF
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NQO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NQO2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NR2F2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NR3C1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NRXN2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NT5E
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NTAN1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NUBPL
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NUDT15
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NUP98
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OLIG3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OTC
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PACSIN2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PAIP2B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PARG
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PCDH9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDE4B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDGFA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDZD2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PECAM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PF4V1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PFDN6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PLS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PMVK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PNP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
POLE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PON1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PPAT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PPP1CB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRAM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRDM2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRKCQ
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRKY
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PROC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PTK7
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PTPN22
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PTPRC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PTPRG
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PTPRM
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PTS
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