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. Annotation of 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.

? = Mouse-over for quick help

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 CA VA HLA-C *06:02:01:01 N/A N/A N/A
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
rs1054774 NC_000009.11:g.130554998T>A, NC_000009.12:g.127792719T>A, NG_033942.1:g.11694T>A, rs3195291, rs58852618
T > A
SNP
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
rs11231809 NC_000011.10:g.64535478T>A, NC_000011.9:g.64302950T>A, rs60605965
T > A
SNP
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs117532069 NC_000020.10:g.53301068G>A, NC_000020.11:g.54684529G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
rs1544105 NC_000009.11:g.130562725C>T, NC_000009.12:g.127800446C>T, NG_023245.1:g.2572C>T, rs56775301, rs60601426
C > T
SNP
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
rs1703794 NC_000015.10:g.99069944T>C, NC_000015.9:g.99613173T>C, NW_003871084.1:g.85897A>G, rs56586848, rs59536856
T > C
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs17602729 34C>T (or G>A as complemented to the plus chromosomal strand), AMPD1 34C>T (or G>A as complemented to the plus chromosomal strand), 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*
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
rs1901633 NC_000010.10:g.4810561A>G, NC_000010.11:g.4768369A>G, XR_930599.1:n.-1817T>C, rs17373082, rs58749271
A > G
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA No Variant Annotations available
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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 > T
SNP
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs2650972 NC_000020.10:g.6783274T>C, NC_000020.11:g.6802627T>C, rs111195393, rs59264576
T > C
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
rs2734414
A > T
SNP
No VIP available No Clinical Annotations available VA
rs2734440
C > A
C > T
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
rs3045983
GGGAGCTGG > -
indel
No VIP available No Clinical Annotations available VA
rs3212227
T > G
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
rs3761548
T > G
SNP
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
VIP No Clinical Annotations available No Variant Annotations available
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
rs4909237
C > A
C > T
SNP
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
rs56103835 NC_000014.8:g.101522556T>C, NC_000014.9:g.101056219T>C, NR_036133.1:n.1T>C
T > A
T > C
SNP
No VIP available No Clinical Annotations available VA
rs56292801
G > A
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs6064463 NC_000020.10:g.55480277T>C, NC_000020.11:g.56905221T>C, rs59614919
T > C
SNP
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
rs66554220 unknown
No VIP available CA VA
rs6920220 NC_000006.11:g.138006504G>A, NC_000006.12:g.137685367G>A, rs17264367, rs56495515, rs57269942, rs58273351
G > A
SNP
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs7301582
C > T
SNP
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
rs7624766 NC_000003.11:g.160429869A>G, NC_000003.12:g.160712081A>G, rs10288868, rs57928390
A > G
SNP
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available CA VA
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
No VIP available No Clinical Annotations available VA
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
No VIP available CA VA
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
No VIP available CA VA
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 ?

Drug Targets

Gene Description
ATIC (source: PharmGKB )
GART (source: PharmGKB )
PPAT (source: PharmGKB )
TYMS (source: PharmGKB )

Curated Information ?

EvidenceDrug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
ibuprofen

Drug Interactions

Interaction Description
acitretin - methotrexate Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
acitretin - methotrexate Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
amoxicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
amoxicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
ampicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
ampicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
aspirin - methotrexate The salicylate increases the effect and toxicity of methotrexate (source: Drug Bank )
aspirin - methotrexate Acetylsalicylic acid increases the effect and toxicity of methotrexate. (source: Drug Bank )
carbenicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
carbenicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
cholestyramine - methotrexate Decreased levels of methotrexate (source: Drug Bank )
cholestyramine - methotrexate Decreased levels of methotrexate (source: Drug Bank )
ciprofloxacin - methotrexate Increases methotrexate toxicity (source: Drug Bank )
ciprofloxacin - methotrexate Increases methotrexate toxicity (source: Drug Bank )
clavulanate - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
cloxacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
cloxacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
cyclosporine - methotrexate Increases the effect and toxicity of methotrexate (source: Drug Bank )
cyclosporine - methotrexate Increases the effect and toxicity of methotrexate (source: Drug Bank )
dibucaine - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
dicloxacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
diflunisal - methotrexate The NSAID, diflunisal, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
digoxin - methotrexate The antineoplasic agent decreases the effect of digoxin (source: Drug Bank )
digoxin - methotrexate The antineoplasic agent decreases the effect of digoxin (source: Drug Bank )
doxycycline - methotrexate The tetracycline increases methotrexate toxicity (source: Drug Bank )
doxycycline - methotrexate The tetracycline, doxycycline, may increase methotrexate toxicity. (source: Drug Bank )
etodolac - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
etodolac - methotrexate The NSAID, etodolac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
fenoprofen - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
fenoprofen - methotrexate The NSAID, fenoprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
flucloxacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
flurbiprofen - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
flurbiprofen - methotrexate The NSAID, flurbiprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
fosphenytoin - methotrexate The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
ibuprofen - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
ibuprofen - methotrexate The NSAID, ibuprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
indomethacin - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
indomethacin - methotrexate The NSAID, indomethacin, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
ketoprofen - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
ketoprofen - methotrexate The NSAID, ketoprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
ketorolac - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
ketorolac - methotrexate The NSAID, ketorolac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
mefenamic acid - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
mefenamic acid - methotrexate The NSAID, mefenamic acid, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - acitretin Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - acitretin Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - amoxicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - amoxicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ampicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ampicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - aspirin The salicylate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - bacampicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - carbenicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - carbenicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - cholestyramine Decreased levels of methotrexate (source: Drug Bank )
methotrexate - cholestyramine Decreased levels of methotrexate (source: Drug Bank )
methotrexate - ciprofloxacin Ciprofloxacin increases methotrexate toxicity (source: Drug Bank )
methotrexate - ciprofloxacin Ciprofloxacin increases methotrexate toxicity (source: Drug Bank )
methotrexate - cisplatin Cisplatin increases methotrexate toxicity (source: Drug Bank )
methotrexate - cisplatin Cisplatin increases methotrexate toxicity (source: Drug Bank )
methotrexate - cloxacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - cloxacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - cyclosporine Cyclosporine increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - cyclosporine Cyclosporine increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - diclofenac The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - diclofenac The NSAID, diclofenac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - dicloxacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - digoxin The antineoplasic agent decreases the effect of digoxin (source: Drug Bank )
methotrexate - digoxin The antineoplasic agent decreases the effect of digoxin (source: Drug Bank )
methotrexate - doxycycline The tetracycline increases methotrexate toxicity (source: Drug Bank )
methotrexate - doxycycline The tetracycline, doxycycline, may increase methotrexate toxicity. (source: Drug Bank )
methotrexate - ethotoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - etodolac The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - etodolac The NSAID, etodolac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - etretinate Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - etretinate Acitretin/etretinate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - fenoprofen The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - fenoprofen The NSAID, fenoprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - flucloxacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - flurbiprofen The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - flurbiprofen The NSAID, flurbiprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - fosphenytoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - hydroxychloroquine Hydroxychloroquine increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ibuprofen The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ibuprofen The NSAID, ibuprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - indomethacin The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - indomethacin The NSAID, indomethacin, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - ketoprofen The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ketoprofen The NSAID, ketoprofen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - ketorolac The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ketorolac The NSAID, ketorolac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - meclofenamic acid The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - mefenamic acid The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - mephenytoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - mephenytoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - mezlocillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - nabumetone The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - nabumetone The NSAID, nabumetone, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - nafcillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - nafcillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - naproxen The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - naproxen The NSAID, naproxen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - omeprazole Omeprazole increases the levels of methotrexate (source: Drug Bank )
methotrexate - omeprazole Omeprazole increases the levels of methotrexate (source: Drug Bank )
methotrexate - oxaprozin The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - oxaprozin The NSAID, oxaprozin, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - penicillin g The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - penicillin g The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - phenylbutazone The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - phenylbutazone The NSAID, phenylbutazone, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - phenytoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - phenytoin The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
methotrexate - piperacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - piperacillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - piroxicam The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - piroxicam The NSAID, piroxicam, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - pivampicillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - probenecid Probenecid increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - probenecid Probenecid increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - procarbazine Increased nephrotoxicity with this combination (source: Drug Bank )
methotrexate - procarbazine Increased nephrotoxicity with this combination (source: Drug Bank )
methotrexate - rofecoxib Rofecoxib increases the levels of methotrexate (source: Drug Bank )
methotrexate - rofecoxib Rofecoxib increases the levels of methotrexate (source: Drug Bank )
methotrexate - salicylate-magnesium The salicylate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - salicylate-sodium The salicylate increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - salicylate-sodium The salicylate, salicylate-sodium, increases the effect and toxicity of methotrexate. (source: Drug Bank )
methotrexate - salsalate The salicylate, salsalate, increases the effect and toxicity of methotrexate. (source: Drug Bank )
methotrexate - sulfacytine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfadiazine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfadiazine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfadoxine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfadoxine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamerazine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamethazine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamethazine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamethizole The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamethoxazole The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfamethoxazole The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfapyridine The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulfisoxazole The sulfamide increases the toxicity of methotrexate (source: Drug Bank )
methotrexate - sulindac The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - sulindac The NSAID, sulindac, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - tetracycline The tetracycline increases methotrexate toxicity (source: Drug Bank )
methotrexate - tetracycline Tetracycline may increase methotrexate toxicity. (source: Drug Bank )
methotrexate - ticarcillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - ticarcillin The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - tolmetin The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
methotrexate - tolmetin The NSAID, tolmetin, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
methotrexate - trimethoprim Timethoprim increases methotrexate toxicity (source: Drug Bank )
methotrexate - trimethoprim Timethoprim increases methotrexate toxicity (source: Drug Bank )
methotrexate - trisalicylate-choline The salicylate, trisalicylate-choline, increases the effect and toxicity of methotrexate. (source: Drug Bank )
nabumetone - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
nabumetone - methotrexate The NSAID, nabumetone, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
naproxen - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
naproxen - methotrexate The NSAID, naproxen, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
omeprazole - methotrexate Omeprazole increases the levels of methotrexate (source: Drug Bank )
omeprazole - methotrexate Omeprazole increases the levels of methotrexate (source: Drug Bank )
oxaprozin - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
oxaprozin - methotrexate The NSAID, oxaprozin, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
penicillin g - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
penicillin g - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
penicillin v - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
phenylbutazone - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
phenylbutazone - methotrexate The NSAID, phenylbutazone, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
phenytoin - methotrexate The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
phenytoin - methotrexate The antineoplasic agent decreases the effect of hydantoin (source: Drug Bank )
piperacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
piperacillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
piroxicam - methotrexate The NSAID increases the effect and toxicity of methotrexate (source: Drug Bank )
piroxicam - methotrexate The NSAID, piroxicam, may decrease the renal excretion of methotrexate. Increased risk of methotrexate toxicity. (source: Drug Bank )
pivampicillin - methotrexate The penicillin increases the effect and toxicity of methotrexate (source: Drug Bank )
probenecid - methotrexate Probenecid increases the effect and toxicity of methotrexate (source: Drug Bank )
probenecid - methotrexate Probenecid increases the effect and toxicity of methotrexate (source: Drug Bank )
sulindac - methotrexate The NSAID, sulindac, may decrease the clearance methotrexate. Consider alternate therapy, especially in patients receiving high antineoplastic doses of methotrexate. Otherwise, monitor for hematologic and renal toxicities. (source: Drug Bank )
tenoxicam - methotrexate Tenoxicam may increase the serum concentration of Methotrexate by reducing renal tubular secretion of Methotrexate. Monitor for changes in Methotrexate therapeutic and adverse effects if Tenoxicam is initiated, discontinued or dose changed. (source: Drug Bank )
tetracycline - methotrexate The tetracycline increases methotrexate toxicity (source: Drug Bank )
tetracycline - methotrexate Tetracycline may increase methotrexate toxicity. (source: Drug Bank )
tiaprofenic acid - methotrexate Tiaprofenic acid may decrease Methotrexate excretion. Consider alternate therapy or monitor for Methotrexate toxicity. (source: Drug Bank )
tolmetin - methotrexate Tolmetin may decrease the renal excretion of Methotrexate. Alternate therapy should be considered. Otherwise, monitor for hemotologic and renal toxicities. (source: Drug Bank )
trastuzumab - methotrexate Trastuzumab may increase the risk of neutropenia and anemia. Monitor closely for signs and symptoms of adverse events. (source: Drug Bank )
trimethoprim - methotrexate Trimethoprim may increase the adverse/toxic effects of Methotrexate (e.g. bone marrow suppression). Concomitant use should be avoided or closely monitored for Methotrexate toxicity. (source: Drug Bank )
trimethoprim - methotrexate Trimethoprim may increase the adverse/toxic effects of Methotrexate (e.g. bone marrow suppression). Concomitant use should be avoided or closely monitored for Methotrexate toxicity. (source: Drug Bank )

Curated Information ?

EvidenceDisease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Abdominal Pain
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
adverse events
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Agranulocytosis
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Alopecia
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Anemia
No Dosing Guideline available DL No Clinical Annotation available VA No VIP available No VIP available
Arthritis
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arthritis, Experimental
No Dosing Guideline available DL CA VA No VIP available No VIP available
Arthritis, Juvenile Rheumatoid
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Arthritis, Psoriatic
No Dosing Guideline available DL CA VA No VIP available No VIP available
Arthritis, Rheumatoid
No Dosing Guideline available DL No Clinical Annotation available VA No VIP available No VIP available
Brain Diseases
No Dosing Guideline available DL CA VA No VIP available No VIP available
Breast Neoplasms
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Burkitt Lymphoma
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Colorectal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
contralateral breast cancer
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
discontinuation
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
disease activity score 28 joint in rheumatoid arthritis
No Dosing Guideline available DL CA VA No VIP available No VIP available
Drug Toxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
drug-induced liver injury
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
event-free survival
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Folic Acid Deficiency
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
gastrointestinal toxicity
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Graft vs Host Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Hematologic Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
hematopoietic stem cell transplantation
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
hemopoietic stem cell transplant
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hypoxia-Ischemia, Brain
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Infection
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
intelligence
No Dosing Guideline available DL CA VA No VIP available No VIP available
Leukemia
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Leukemia, B-Cell, Acute
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Leukemia, Lymphoid
No Dosing Guideline available DL CA VA No VIP available No VIP available
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Myeloid, Acute
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Leukopenia
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Lymphoma
No Dosing Guideline available DL CA VA No VIP available No VIP available
Lymphoma, Non-Hodgkin
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Lymphoma, T-Cell
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mesothelioma
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
mucositis
No Dosing Guideline available DL No Clinical Annotation available VA No VIP available No VIP available
Myelosuppression
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neoplasm Metastasis
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Neoplasm, Residual
No Dosing Guideline available DL CA VA No VIP available No VIP available
Neoplasms
No Dosing Guideline available DL No Clinical Annotation available VA No VIP available No VIP available
Neoplasms, Second Primary
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
nephrotoxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neurotoxicity Syndromes
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neutropenia
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Osteonecrosis
No Dosing Guideline available DL CA VA No VIP available No VIP available
Osteosarcoma
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Ovarian Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
overall survival
No Dosing Guideline available DL CA VA No VIP available No VIP available
Precursor Cell Lymphoblastic Leukemia-Lymphoma
No Dosing Guideline available DL CA VA No VIP available No VIP available
Psoriasis
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Recurrence
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Rheumatoid Nodule
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Stomach Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Stomatitis
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Thrombocytopenia
No Dosing Guideline available DL CA VA No VIP available No VIP available
Toxic liver disease
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Transplantation
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
treatment modification

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
Contraindicated With

Publications related to methotrexate: 337

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The role of the MTHFR C677T polymorphism in methotrexate-induced toxicity in pediatric osteosarcoma patients. Pharmacogenomics. 2017. Lambrecht Loes, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations. Pharmacogenomics. 2017. Al-Mahayri Zeina N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Incidence and triggers of Stevens-Johnson syndrome and toxic epidermal necrolysis in a large cancer patient cohort. The Journal of investigative dermatology. 2017. Gillis Nancy K, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic markers to predict the clinical response to methotrexate in south Indian Tamil patients with psoriasis. European journal of clinical pharmacology. 2017. Indhumathi S, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Clinical-pharmacogenetic models for personalized cancer treatment: application to malignant mesothelioma. Scientific reports. 2017. Goričar Katja, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Investigating methotrexate toxicity within a randomized double-blinded, placebo-controlled trial: Rationale and design of the Cardiovascular Inflammation Reduction Trial-Adverse Events (CIRT-AE) Study. Seminars in arthritis and rheumatism. 2017. Sparks Jeffrey A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Are gene polymorphisms related to treatment outcomes of methotrexate in patients with rheumatoid arthritis? A systematic review and meta-analysis. Pharmacogenomics. 2017. Chen Yuehong, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The plausible association of MTHFR and ADORA2A polymorphisms with nodules in rheumatoid arthritis patients treated with methotrexate. Pharmacogenetics and genomics. 2016. Soukup Tomas, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ATIC missense variant affects response to methotrexate treatment in rheumatoid arthritis patients. Pharmacogenomics. 2016. Kurzawski Mateusz, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome. Pharmacogenomics. 2016. Lima Aurea, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MiR-pharmacogenetics of methotrexate in childhood B-cell acute lymphoblastic leukemia. Pharmacogenetics and genomics. 2016. Iparraguirre Leire, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of 63/91 length polymorphism in the DHFR gene major promoter with toxicity of methotrexate in patients with rheumatoid arthritis. Pharmacogenomics. 2016. Jekic Biljana, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies. Pediatric blood & cancer. 2016. Tsujimoto Shin-Ichi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KIR2DL2 and KIR2DS2 as genetic markers to the methotrexate response in Rheumatoid Arthritis patients. Immunopharmacology and immunotoxicology. 2016. Enif Velarde-de la Cruz Erandi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prophylactic Trimethoprim-Sulfamethoxazole Does Not Affect Pharmacokinetics or Pharmacodynamics of Methotrexate. Journal of pediatric hematology/oncology. 2016. Watts Courtney S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis. Pharmacogenomics. 2016. Muralidharan Niveditha, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Methotrexate pharmacokinetic genetic variants are associated with outcome in rheumatoid arthritis patients. Pharmacogenomics. 2016. Moya Patricia, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms within the human leucocyte antigen-E gene and their associations with susceptibility to rheumatoid arthritis as well as clinical outcome of anti-tumour necrosis factor therapy. Clinical and experimental immunology. 2015. Iwaszko M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis. Pharmacogenomics. 2015. Ghodke-Puranik Yogita, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
G80A Single Nucleotide Polymorphism in Reduced Folate Carrier-1 Gene in a Mexican Population and its Impact on Survival in Patients with Acute Lymphoblastic Leukemia. Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición. 2016. Candelaria Myrna, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomically actionable medications in a safety net health care system. SAGE open medicine. 2016. Carpenter Janet S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic risk factors for the development of osteonecrosis in children under age 10 treated for acute lymphoblastic leukemia. Blood. 2015. Karol Seth E, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Influence of CD94 and NKG2A variants on susceptibility to rheumatoid arthritis and efficacy of anti-TNF treatment. Joint, bone, spine : revue du rhumatisme. 2015. Iwaszko Milena, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner. Pharmacogenomics. 2015. Kotur Nikola, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate. The pharmacogenomics journal. 2015. Jabeen S, et al. PubMed
No Dosing Guideline available No Drug Label available