Chemical: Prodrug
gemcitabine

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.


1. FDA Label for gemcitabine

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.

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

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

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

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

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

List of all variant annotations for gemcitabine

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA GSTM1 non-null N/A N/A N/A
No VIP available No VIP available VA GSTM1 null N/A N/A N/A
No VIP available CA VA
rs1042858 NC_000011.10:g.4138236G>A, NC_000011.9:g.4159466G>A, NG_027992.2:g.48543G>A, NM_001033.3:c.2232G>A, NM_001033.4:c.2232G>A, NM_001318064.1:c.1941G>A, NM_001318065.1:c.1218G>A, NP_001024.1:p.Ala744=, NP_001304993.1:p.Ala647=, NP_001304994.1:p.Ala406=, XM_005253058.1:c.1989G>A, XM_005253059.1:c.1941G>A, XM_011520277.1:c.1941G>A, XM_011520278.1:c.1566G>A, XM_011520279.1:c.1218G>A, XP_005253115.1:p.Ala663=, XP_005253116.1:p.Ala647=, XP_011518579.1:p.Ala647=, XP_011518580.1:p.Ala522=, XP_011518581.1:p.Ala406=, rs17850107, rs2229195, rs2584873, rs3168060, rs57259172
G > A
SNP
A744A
No VIP available CA VA
rs1042927 NC_000011.10:g.4138699C>A, NC_000011.9:g.4159929C>A, NG_027992.2:g.49006C>A, NM_001033.3:c.*316C>A, NM_001033.4:c.*316C>A, NM_001318064.1:c.*316C>A, NM_001318065.1:c.*316C>A, XM_005253058.1:c.*316C>A, XM_005253059.1:c.*316C>A, XM_011520277.1:c.*316C>A, XM_011520278.1:c.*316C>A, XM_011520279.1:c.*316C>A, rs16930058, rs1735067, rs3168058, rs58834141
C > A
SNP
No VIP available CA VA
rs1044457 NC_000001.10:g.47842777C>T, NC_000001.11:g.47377105C>T, NM_001136140.1:c.*360C>T, NM_016308.2:c.*360C>T, NR_046394.1:n.1119C>T, rs17378832, rs3184215, rs3767626
C > -
C > T
SNP
No VIP available No Clinical Annotations available VA
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 CA VA
rs1048977 NC_000001.10:g.20945055C>T, NC_000001.11:g.20618562C>T, NM_001785.2:c.435C>T, NP_001776.1:p.Thr145=, rs17846527, rs17859600, rs3189038, rs57498302
C > T
SNP
T145T
No VIP available No Clinical Annotations available VA
rs10489997 NC_000002.11:g.160405498C>T, NC_000002.12:g.159548987C>T, NM_001289975.1:c.-3+6836G>A, NM_013450.3:c.-3+6836G>A, XM_005246488.1:c.-3+6836G>A, XM_005246488.2:c.-3+6836G>A, XM_005246490.1:c.-3+6836G>A, XM_005246491.1:c.-3+6836G>A, XM_005246493.1:c.-3+6836G>A, XM_005246494.1:c.-3+6836G>A, XM_005246495.1:c.-3+6836G>A, XM_005246496.1:c.-3+6836G>A, XM_005246497.1:c.-3+6836G>A, XM_005246498.1:c.-3+6836G>A, XM_005246499.1:c.-3+6836G>A, XM_005246500.1:c.-3+6836G>A, XM_005246501.1:c.-3+6836G>A, XM_005246502.1:c.-3+6836G>A, XM_006712461.2:c.-3+6836G>A, XM_011511036.1:c.-50+6836G>A, XM_011511037.1:c.-50+6836G>A, XM_011511040.1:c.-3+6836G>A, XM_011511047.1:c.-3+6836G>A, XM_011511048.1:c.-3+6836G>A, rs17423858, rs60485016, rs74268443
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1056836 NC_000002.11:g.38298203C>G, NC_000002.12:g.38071060G=, NG_008386.2:g.10042C=, NG_008386.2:g.10042C>G, NM_000104.3:c.1294C=, NM_000104.3:c.1294C>G, NP_000095.2:p.Leu432=, NP_000095.2:p.Leu432Val, rs17405323, rs3731848, rs52802961, rs59494749
C > G
SNP
L432V
No VIP available CA VA
rs1060896 NC_000015.10:g.45262069C>A, NC_000015.9:g.45554267C>A, NM_004212.3:c.225C>A, NP_004203.2:p.Ser75Arg, NR_120335.1:n.27-6071G>T, XM_011522198.1:c.225C>A, XM_011522199.1:c.225C>A, XM_011522200.1:c.225C>A, XM_011522201.1:c.225C>A, XP_011520500.1:p.Ser75Arg, XP_011520501.1:p.Ser75Arg, XP_011520502.1:p.Ser75Arg, XP_011520503.1:p.Ser75Arg, XR_243147.1:n.32-6071G>T, rs17215647, rs17532209, rs52828213, rs58568974
C > A
SNP
S75R
No VIP available CA VA
rs1065634 NC_000001.10:g.115259768T>C, NC_000001.11:g.114717147T>C, NG_007572.1:g.4748A>G, NM_001007553.2:c.*1022A>G, NM_001130523.2:c.*1022A>G, NM_001242891.1:c.*1022A>G, NM_001242892.1:c.*1022A>G, NM_001242893.1:c.*1022A>G, NM_002524.4:c.-507A>G, NM_007158.5:c.*1022A>G, XM_005271178.1:c.*1022A>G, rs3167734, rs57399409
T > C
SNP
No VIP available No Clinical Annotations available VA
rs10736526 NC_000011.10:g.122718384T>C, NC_000011.9:g.122589092T>C, NM_032873.4:c.162-57835T>C, XM_011543042.1:c.53-57835T>C, rs57673796
T > C
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 No Clinical Annotations available VA
rs10883617 NC_000010.10:g.103113035T>C, NC_000010.11:g.101353278T>C, NG_009234.1:g.4211T>C, NM_001256856.1:c.-903T>C, NM_003939.4:c.-903T>C, NM_033637.3:c.-903T>C, XM_006718054.2:c.-903T>C, XR_428727.1:n.-836T>C, rs60094975
T > C
SNP
No VIP available CA VA
rs10916852 NC_000001.10:g.21052693G>T, NC_000001.11:g.20726200G>T, NM_001103160.1:c.-9-134C>A, NM_001103161.1:c.244-134C>A, XM_011541459.1:c.244-134C>A, XM_011541460.1:c.244-134C>A, XM_011541461.1:c.244-134C>A, XM_011541462.1:c.244-134C>A, rs58177823
G > T
SNP
No VIP available CA VA
rs11030918 NC_000011.10:g.4094257T>C, NC_000011.9:g.4115487T>C, NG_016277.1:g.243555T>C, NG_027992.2:g.4564T>C, NM_001033.4:c.-756T>C, NM_001318064.1:c.-869T>C, XM_005253058.1:c.-756T>C, XM_005253059.1:c.-869T>C, XM_011520277.1:c.-869T>C, rs17210557, rs17554091
T > C
SNP
No VIP available No Clinical Annotations available VA
rs11062040 NC_000012.11:g.2091257C>T, NC_000012.12:g.1982091C>T, NG_008801.2:g.16306C>T, NM_152640.4:c.319+11173G>A, NR_135060.1:n.549+9030G>A, XM_005253765.1:c.139+10890C>T, XM_006719017.1:c.139+10890C>T, XM_011520927.1:c.13+9030G>A, XM_011520928.1:c.-62-2324G>A, XM_011521020.1:c.139+10890C>T, rs16928987, rs58571186
C > T
SNP
No VIP available CA VA
rs11141915 NC_000009.11:g.90235794A>C, NC_000009.12:g.87620879A>C, NG_029883.1:g.128039A>C, NM_001288729.1:c.284+15704A>C, NM_001288730.1:c.284+15704A>C, NM_001288731.1:c.284+15704A>C, NM_004938.3:c.284+15704A>C, XM_005251755.1:c.284+15704A>C, XM_005251756.1:c.284+15704A>C, XM_005251757.1:c.284+15704A>C, XM_005251757.2:c.284+15704A>C, rs36209074, rs58921402
A > C
SNP
No VIP available CA VA
rs11211524 NC_000001.10:g.47833213A>C, NC_000001.11:g.47367541A>C, NM_001136140.1:c.172-5414A>C, NM_016308.2:c.172-928A>C, NR_046394.1:n.321-928A>C
A > C
SNP
No VIP available CA VA
rs1127687 NC_000010.10:g.115490109G>A, NC_000010.11:g.113730350G>A, NM_001227.4:c.*810G>A, NM_001267056.1:c.*810G>A, NM_001267057.1:c.*810G>A, NM_001267058.1:c.*810G>A, NM_033338.5:c.*810G>A, NM_033339.4:c.*810G>A, NM_033340.3:c.*926G>A, XM_006718017.2:c.*810G>A, XM_006718018.1:c.*810G>A, XM_011540259.1:c.*810G>A, XM_011540260.1:c.*810G>A, rs3183905, rs56449372
G > A
SNP
No VIP available No Clinical Annotations available 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 CA VA
rs1155463 NC_000021.8:g.23140523C>A, NC_000021.9:g.21768203C>A, NR_109958.1:n.350-16770C>A, XR_244296.1:n.350-16770C>A, rs60997190
C > A
SNP
No VIP available CA VA
rs11598702 NC_000010.10:g.104897985T>C, NC_000010.11:g.103138228T>C, NG_042272.1:g.60079A>G, NM_001134373.2:c.175+1178A>G, NM_012229.4:c.175+1178A>G, XM_005269632.1:c.175+1178A>G, XM_005269632.3:c.175+1178A>G, XM_005269633.1:c.175+1178A>G, XM_005269633.3:c.175+1178A>G, XM_005269634.1:c.175+1178A>G, XM_005269634.3:c.175+1178A>G, XM_005269635.1:c.175+1178A>G, XM_005269635.3:c.175+1178A>G, XM_005269636.1:c.175+1178A>G, XM_005269636.3:c.175+1178A>G, XM_005269637.1:c.88+1178A>G, XM_005269637.3:c.88+1178A>G, XM_005269638.1:c.79+1178A>G, XM_005269638.3:c.79+1178A>G, XM_005269639.1:c.88+1178A>G, XM_005269639.3:c.88+1178A>G, XM_005269640.1:c.-460+1178A>G, XM_005269640.3:c.-460+1178A>G, XM_005269641.1:c.-460+1178A>G, XM_005269641.3:c.-460+1178A>G, XM_005269642.1:c.-460+1178A>G, XM_005269642.3:c.-460+1178A>G, XM_005269643.1:c.-398-31522A>G, XM_005269643.3:c.-398-31522A>G, XM_005269644.1:c.-484+1178A>G, XM_005269644.3:c.-484+1178A>G, XM_005269645.1:c.-484+1178A>G, XM_005269645.3:c.-484+1178A>G, XM_005269646.1:c.-483-26423A>G, XM_005269646.3:c.-483-26423A>G, XM_006717721.2:c.-459-26423A>G, XM_006717722.2:c.-281+1178A>G, XM_006717723.2:c.-281+1178A>G, XM_006717724.2:c.-305+1178A>G, XM_011539534.1:c.175+1178A>G, XM_011539535.1:c.-1974A>G, XM_011539536.1:c.-43+1178A>G, XM_011539537.1:c.175+1178A>G, rs17728547, rs52826896, rs61084912
T > C
SNP
No VIP available No Clinical Annotations available VA
rs11615 NC_000019.10:g.45420395A>G, NC_000019.9:g.45923653A>G, NG_015839.2:g.63434T>C, NM_001166049.1:c.354T>C, NM_001983.3:c.354T>C, NM_202001.2:c.354T>C, NP_001159521.1:p.Asn118=, NP_001974.1:p.Asn118=, NP_973730.1:p.Asn118=, XM_005258634.1:c.354T>C, XM_005258635.1:c.354T>C, XM_005258635.2:c.354T>C, XM_005258636.1:c.354T>C, XM_005258636.3:c.354T>C, XM_005258637.1:c.354T>C, XM_005258638.1:c.138T>C, XM_011526610.1:c.354T>C, XP_005258691.1:p.Asn118=, XP_005258692.1:p.Asn118=, XP_005258693.1:p.Asn118=, XP_005258694.1:p.Asn118=, XP_005258695.1:p.Asn46=, XP_011524912.1:p.Asn118=, rs1130005, rs17285882, rs17359303, rs17845191, rs17858003, rs17859564, rs2228629, rs3177700, rs3188446, rs3752251, rs59923575
A > G
SNP
N118N
No VIP available No Clinical Annotations available VA
rs11644322 NC_000016.10:g.79005703C>T, NC_000016.9:g.79039600C>T, NG_011698.1:g.911050C>T, NM_001291997.1:c.718-205905C>T, NM_016373.3:c.1057-205905C>T, XM_005255980.1:c.410-205905C>T, XM_005255981.1:c.718-205905C>T, XM_005255982.1:c.517-205905C>T, XM_011523100.1:c.1153-205905C>T, XM_011523103.1:c.*29-205905C>T, XR_243411.1:n.1336+9347C>T, rs57874701, rs74247435
C > T
SNP
No VIP available CA VA
rs11710163 NC_000003.11:g.12696288A>G, NC_000003.12:g.12654789A>G, NG_007467.1:g.14391T>C, NM_002880.3:c.-27+9024T>C, XM_005265355.1:c.-27+8580T>C, XM_005265356.1:c.-120+9024T>C, XM_005265357.1:c.-27+9024T>C, XM_005265358.1:c.-157+9024T>C, XM_005265358.3:c.-157+9024T>C, XM_005265359.1:c.-157+9024T>C, XM_005265359.3:c.-157+9024T>C, XM_005265360.1:c.-27+9024T>C, XM_011533974.1:c.-120+9024T>C, XM_011533975.1:c.-250+9024T>C, rs58836253
A > G
SNP
No VIP available CA VA
rs11719165 NC_000003.11:g.194586088T>C, NC_000003.12:g.194865359T>C, rs57619894
T > C
SNP
No VIP available No Clinical Annotations available VA
rs11853372 NC_000015.10:g.84913115T>G, NC_000015.9:g.85456346T>G, NM_001287761.1:c.795+4320T>G, NM_001287762.1:c.795+4320T>G, NM_004213.4:c.795+4320T>G, XM_005254988.1:c.795+4320T>G, XM_005254989.1:c.795+4320T>G, XM_005254990.1:c.795+4320T>G, XM_005254991.1:c.795+4320T>G, XM_005254992.1:c.768+4320T>G, XM_005254993.1:c.718-5409T>G, XM_005254994.1:c.561+4320T>G, XM_005254995.1:c.795+4320T>G, XM_011522203.1:c.795+4320T>G, XM_011522204.1:c.795+4320T>G, XM_011522205.1:c.795+4320T>G, XM_011522206.1:c.795+4320T>G, XM_011522207.1:c.795+4320T>G, XM_011522208.1:c.768+4320T>G, XM_011522209.1:c.718-5409T>G, XM_011522210.1:c.795+4320T>G, XM_011522211.1:c.561+4320T>G, XM_011522212.1:c.795+4320T>G, XM_011522213.1:c.795+4320T>G, XM_011522214.1:c.795+4320T>G, XM_011522215.1:c.795+4320T>G, XM_011522216.1:c.561+4320T>G, XM_011522217.1:c.795+4320T>G, XM_011522218.1:c.795+4320T>G, XR_931944.1:n.1001+4320T>G, XR_931945.1:n.1001+4320T>G, rs56464354, rs58685299
T > G
SNP
No VIP available CA VA
rs11854484 NC_000015.10:g.45253280C>T, NC_000015.9:g.45545478C>T, NM_004212.3:c.65C>T, NP_004203.2:p.Pro22Leu, NR_120335.1:n.180+586G>A, XM_011522198.1:c.65C>T, XM_011522199.1:c.65C>T, XM_011522200.1:c.65C>T, XM_011522201.1:c.65C>T, XP_011520500.1:p.Pro22Leu, XP_011520501.1:p.Pro22Leu, XP_011520502.1:p.Pro22Leu, XP_011520503.1:p.Pro22Leu, XR_243147.1:n.270+501G>A, rs17215661, rs17525501, rs52805892, rs61637002
C > T
SNP
P22L
No VIP available CA VA
rs12046844 NC_000001.10:g.66238379G>A, NC_000001.11:g.65772696G>A, rs60665040
G > A
SNP
No VIP available No Clinical Annotations available VA
rs12090346 NC_000001.10:g.47841557C>T, NC_000001.11:g.47375885C>T, NM_001136140.1:c.498+592C>T, NM_016308.2:c.645+592C>T, NR_046394.1:n.717+592C>T
C > T
SNP
No VIP available CA VA
rs12118636 NC_000001.10:g.53076159G>A, NC_000001.11:g.52610487G>A, rs34623603
G > A
SNP
No VIP available CA No Variant Annotations available
rs121434568 NC_000007.13:g.55259515T>G, NC_000007.14:g.55191822T>G, NG_007726.3:g.177791T>G, NM_005228.3:c.2573T>G, NP_005219.2:p.Leu858Arg, XM_005271746.1:c.2438T>G, XM_005271747.1:c.2414T>G, XP_005271803.1:p.Leu813Arg, XP_005271804.1:p.Leu805Arg
T > G
SNP
L858R
No VIP available No Clinical Annotations available VA
rs12361312 NC_000011.10:g.60085123C>T, NC_000011.9:g.59852596C>T, NG_016014.1:g.1460C>T, rs60197873, rs80051171
C > T
SNP
No VIP available CA VA
rs12415607 NC_000010.10:g.115438204C>A, NC_000010.11:g.113678445C>A, NM_001227.4:c.-1534C>A, NM_001267056.1:c.-905C>A, NM_001267057.1:c.-1310C>A, NM_033338.5:c.-1542C>A, NM_033339.4:c.-1608C>A, NM_033340.3:c.-905C>A, XM_006718018.1:c.-912C>A, rs34414451, rs56491430, rs60647096
C > A
SNP
No VIP available CA VA
rs12507552 NC_000004.11:g.183813425C>T, NC_000004.12:g.182892272C>T, NM_001012732.1:c.491+759G>A, NM_001921.2:c.458+759G>A, XM_005262778.1:c.491+759G>A, XM_005262778.2:c.491+759G>A, XM_005262779.1:c.458+759G>A, XM_005262779.2:c.458+759G>A, XM_005262780.1:c.458+759G>A, XM_005262780.2:c.458+759G>A, XM_005262781.1:c.281+759G>A, XM_005262781.3:c.281+759G>A, XM_005262782.1:c.281+759G>A, XM_005262782.2:c.281+759G>A, XM_006714115.2:c.281+759G>A, XM_006714116.2:c.281+759G>A, XM_011531674.1:c.458+759G>A, XM_011531675.1:c.281+759G>A, XM_011531676.1:c.281+759G>A, XM_011531677.1:c.281+759G>A, rs58281403
C > T
SNP
No VIP available No Clinical Annotations available VA
rs12648166 NC_000004.11:g.71873745A>G, NC_000004.12:g.71008028A>G, NG_023303.1:g.19481A>G, NM_000788.2:c.207+9846A>G, XM_005265649.1:c.24+1697A>G, rs13122407, rs17686944
A > G
SNP
No VIP available CA VA
rs12806698 NC_000011.10:g.4094744C>A, NC_000011.9:g.4115974C>A, NG_016277.1:g.244042C>A, NG_027992.2:g.5051C>A, NM_001033.3:c.-269C>A, NM_001033.4:c.-269C>A, NM_001318064.1:c.-382C>A, XM_005253058.1:c.-269C>A, XM_005253059.1:c.-382C>A, XM_011520277.1:c.-382C>A, rs17554111
C > A
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 No Clinical Annotations available VA
rs1453542 NC_000011.10:g.59457412G>C, NC_000011.9:g.59224885G>C, NM_001004708.1:c.452G>C, NP_001004708.1:p.Ser151Thr, rs111170546, rs17500408, rs59413929
G > C
SNP
S151T
No VIP available No Clinical Annotations available 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
rs1705772 NC_000012.11:g.34174756G>A, NC_000012.12:g.34021821G>A, NG_016389.1:g.4541G>A, NM_032834.3:c.-779G>A, rs386542136, rs56802576
G > A
SNP
No VIP available No Clinical Annotations available VA
rs17215836 NC_000015.10:g.84895081_84895082insTGT, NC_000015.9:g.85438312_85438313insTGT, NM_001287761.1:c.419_420insTGT, NM_001287762.1:c.419_420insTGT, NM_004213.4:c.419_420insTGT, NM_201651.2:c.419_420insTGT, NP_001274690.1:p.Leu140_Lys141insVal, NP_001274691.1:p.Leu140_Lys141insVal, NP_004204.3:p.Leu140_Lys141insVal, NP_964014.1:p.Leu140_Lys141insVal, XM_005254988.1:c.419_420insTGT, XM_005254989.1:c.419_420insTGT, XM_005254990.1:c.419_420insTGT, XM_005254991.1:c.419_420insTGT, XM_005254992.1:c.392_393insTGT, XM_005254993.1:c.419_420insTGT, XM_005254994.1:c.185_186insTGT, XM_005254995.1:c.419_420insTGT, XM_011522203.1:c.419_420insTGT, XM_011522204.1:c.419_420insTGT, XM_011522205.1:c.419_420insTGT, XM_011522206.1:c.419_420insTGT, XM_011522207.1:c.419_420insTGT, XM_011522208.1:c.392_393insTGT, XM_011522209.1:c.419_420insTGT, XM_011522210.1:c.419_420insTGT, XM_011522211.1:c.185_186insTGT, XM_011522212.1:c.419_420insTGT, XM_011522213.1:c.419_420insTGT, XM_011522214.1:c.419_420insTGT, XM_011522215.1:c.419_420insTGT, XM_011522216.1:c.185_186insTGT, XM_011522217.1:c.419_420insTGT, XM_011522218.1:c.419_420insTGT, XP_005255045.1:p.Leu140_Lys141insVal, XP_005255046.1:p.Leu140_Lys141insVal, XP_005255047.1:p.Leu140_Lys141insVal, XP_005255048.1:p.Leu140_Lys141insVal, XP_005255049.1:p.Leu131_Lys132insVal, XP_005255050.1:p.Leu140_Lys141insVal, XP_005255051.1:p.Leu62_Lys63insVal, XP_005255052.1:p.Leu140_Lys141insVal, XP_011520505.1:p.Leu140_Lys141insVal, XP_011520506.1:p.Leu140_Lys141insVal, XP_011520507.1:p.Leu140_Lys141insVal, XP_011520508.1:p.Leu140_Lys141insVal, XP_011520509.1:p.Leu140_Lys141insVal, XP_011520510.1:p.Leu131_Lys132insVal, XP_011520511.1:p.Leu140_Lys141insVal, XP_011520512.1:p.Leu140_Lys141insVal, XP_011520513.1:p.Leu62_Lys63insVal, XP_011520514.1:p.Leu140_Lys141insVal, XP_011520515.1:p.Leu140_Lys141insVal, XP_011520516.1:p.Leu140_Lys141insVal, XP_011520517.1:p.Leu140_Lys141insVal, XP_011520518.1:p.Leu62_Lys63insVal, XP_011520519.1:p.Leu140_Lys141insVal, XP_011520520.1:p.Leu140_Lys141insVal, XR_931944.1:n.625_626insTGT, XR_931945.1:n.625_626insTGT, rs45577135, rs57140500
- > TGT
indel
No VIP available No Clinical Annotations available VA
rs17216177 NC_000010.10:g.101603522T>C, NC_000010.11:g.99843765T>C, NG_011798.1:g.66060T>C, NM_000392.4:c.3742-34T>C, XM_005269536.1:c.3463-34T>C, XM_006717630.2:c.3046-34T>C, XR_945604.1:n.3931-34T>C, XR_945605.1:n.3806-34T>C, rs45616434
T > C
SNP
No VIP available CA VA
rs17309872 NC_000020.10:g.33515788A>T, NC_000020.11:g.34927985A>T, NG_008848.1:g.32814T>A, NG_011520.1:g.58044A>T, NM_000178.2:c.*843T>A, NM_001076552.2:c.*771A>T, NM_001242393.1:c.*771A>T, NM_018677.3:c.*771A>T, XM_005260405.1:c.*843T>A, XM_005260406.1:c.*843T>A, XM_005260406.3:c.*843T>A, XM_005260454.1:c.*771A>T, XM_005260455.1:c.*771A>T, XM_005260456.1:c.*771A>T, XM_005260457.1:c.*771A>T, XM_006723826.1:c.*771A>T, XM_011528796.1:c.*843T>A, XM_011528905.1:c.*771A>T, XM_011528906.1:c.*771A>T, XM_011528907.1:c.*771A>T, XM_011528908.1:c.*771A>T, XM_011528909.1:c.*771A>T, XM_011528910.1:c.*771A>T, XM_011528911.1:c.*771A>T, XM_011528912.1:c.*771A>T
A > G
A > T
SNP
No VIP available No Clinical Annotations available VA
rs179619 NC_000016.10:g.13728502C>T, NC_000016.9:g.13822359C>T, rs17199471, rs386545482, rs59432423
C > T
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 No Clinical Annotations available VA
rs1800440 NC_000002.11:g.38298139T>C, NC_000002.12:g.38070996T>C, NG_008386.2:g.10106A>G, NM_000104.3:c.1358A>G, NP_000095.2:p.Asn453Ser, rs17405302, rs386545580, rs4134586, rs4986886, rs56879535
T > C
SNP
N453S
No VIP available No Clinical Annotations available VA
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
No VIP available No Clinical Annotations available VA
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 No Clinical Annotations available 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 No Clinical Annotations available VA
rs1808458 NC_000002.11:g.118879253C>T, NC_000002.12:g.118121677C>T, rs386545786, rs60780906
C > T
SNP
No VIP available CA VA
rs183484 NC_000011.10:g.4119902C>A, NC_000011.9:g.4141132C>A, NG_027992.2:g.30209C>A, NM_001033.3:c.850C>A, NM_001033.4:c.850C>A, NM_001318064.1:c.559C>A, NM_001318065.1:c.-207C>A, NP_001024.1:p.Arg284=, NP_001304993.1:p.Arg187=, XM_005253058.1:c.607C>A, XM_005253059.1:c.559C>A, XM_011520277.1:c.559C>A, XM_011520278.1:c.184C>A, XM_011520279.1:c.-207C>A, XP_005253115.1:p.Arg203=, XP_005253116.1:p.Arg187=, XP_011518579.1:p.Arg187=, XP_011518580.1:p.Arg62=, rs17210748, rs1735058, rs17850105, rs2228122
C > A
SNP
R284R
No VIP available No Clinical Annotations available VA
rs1885301 NC_000010.10:g.101541053A>G, NC_000010.11:g.99781296A>G, NG_011798.1:g.3591A>G, NM_000392.4:c.-1549A>G, XM_005269536.1:c.-1549A>G, XM_006717631.2:c.-1549A>G, XM_011539291.1:c.-1549A>G, XR_945604.1:n.-1360A>G, XR_945605.1:n.-1358A>G, rs17216261, rs59934936
A > G
SNP
No VIP available CA VA
rs1901440 NC_000002.11:g.134437959C>A, NC_000002.12:g.133680388C>A, rs60584215
C > A
SNP
No VIP available No Clinical Annotations available VA
rs1910236 NC_000003.11:g.59434420G>A, NC_000003.12:g.59448694G>A, XR_940882.1:n.376+87150G>A, XR_940883.1:n.437+87150G>A, rs17271954, rs61101344
G > A
SNP
No VIP available CA VA
rs201045130 NC_000001.10:g.40125139A>G, NC_000001.11:g.39659467A>G, NM_032526.2:c.761T>C, NP_115915.1:p.Leu254Pro
A > G
SNP
L254P
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
SNP
S893A
No VIP available CA VA
rs2072671 NC_000001.10:g.20915701A>C, NC_000001.11:g.20589208A>C, NM_001785.2:c.79A>C, NP_001776.1:p.Lys27Gln, rs57221291
A > C
SNP
K27Q
No VIP available CA VA
rs2227310 NC_000010.10:g.115489152C>G, NC_000010.11:g.113729393C>G, NM_001227.4:c.765C>G, NM_001267056.1:c.765C>G, NM_001267057.1:c.1020C>G, NM_001267058.1:c.690C>G, NM_033338.5:c.864C>G, NM_033339.4:c.765C>G, NM_033340.3:c.731C>G, NP_001218.1:p.Asp255Glu, NP_001253985.1:p.Asp255Glu, NP_001253986.1:p.Asp340Glu, NP_001253987.1:p.Asp230Glu, NP_203124.1:p.Asp288Glu, NP_203125.1:p.Asp255Glu, NP_203126.1:p.Thr244Ser, XM_006718017.2:c.807C>G, XM_006718018.1:c.789C>G, XM_011540259.1:c.864C>G, XM_011540260.1:c.666C>G, XP_006718080.1:p.Asp269Glu, XP_006718081.1:p.Asp263Glu, XP_011538561.1:p.Asp288Glu, XP_011538562.1:p.Asp222Glu, rs56575824, rs58736298, rs58910029
C > G
SNP
D255E/S
No VIP available CA VA
rs2242046 NC_000015.10:g.84935498G>A, NC_000015.9:g.85478729G>A, NM_001287761.1:c.1084-7947G>A, NM_001287762.1:c.1561G>A, NM_004213.4:c.1561G>A, NP_001274691.1:p.Asp521Asn, NP_004204.3:p.Asp521Asn, XM_005254988.1:c.1561G>A, XM_005254989.1:c.1561G>A, XM_005254990.1:c.1561G>A, XM_005254991.1:c.1561G>A, XM_005254992.1:c.1534G>A, XM_005254993.1:c.1483G>A, XM_005254994.1:c.1327G>A, XM_005254995.1:c.1084-7947G>A, XM_011522203.1:c.1561G>A, XM_011522204.1:c.1561G>A, XM_011522205.1:c.1561G>A, XM_011522206.1:c.1561G>A, XM_011522207.1:c.1561G>A, XM_011522208.1:c.1534G>A, XM_011522209.1:c.1483G>A, XM_011522210.1:c.1561G>A, XM_011522211.1:c.1327G>A, XM_011522212.1:c.1561G>A, XM_011522213.1:c.1561G>A, XM_011522214.1:c.1561G>A, XM_011522215.1:c.1084-7947G>A, XM_011522216.1:c.1327G>A, XM_011522217.1:c.1084-7947G>A, XP_005255045.1:p.Asp521Asn, XP_005255046.1:p.Asp521Asn, XP_005255047.1:p.Asp521Asn, XP_005255048.1:p.Asp521Asn, XP_005255049.1:p.Asp512Asn, XP_005255050.1:p.Asp495Asn, XP_005255051.1:p.Asp443Asn, XP_011520505.1:p.Asp521Asn, XP_011520506.1:p.Asp521Asn, XP_011520507.1:p.Asp521Asn, XP_011520508.1:p.Asp521Asn, XP_011520509.1:p.Asp521Asn, XP_011520510.1:p.Asp512Asn, XP_011520511.1:p.Asp495Asn, XP_011520512.1:p.Asp521Asn, XP_011520513.1:p.Asp443Asn, XP_011520514.1:p.Asp521Asn, XP_011520515.1:p.Asp521Asn, XP_011520516.1:p.Asp521Asn, XP_011520518.1:p.Asp443Asn, XR_931944.1:n.1636G>A, rs17216003, rs17609392, rs386562296, rs57854627
G > A
SNP
D521N
No VIP available No Clinical Annotations available VA
rs2242047 NC_000015.10:g.84935465C>T, NC_000015.9:g.85478696C>T, NM_001287761.1:c.1084-7980C>T, NM_001287762.1:c.1528C>T, NM_004213.4:c.1528C>T, NP_001274691.1:p.Arg510Cys, NP_004204.3:p.Arg510Cys, XM_005254988.1:c.1528C>T, XM_005254989.1:c.1528C>T, XM_005254990.1:c.1528C>T, XM_005254991.1:c.1528C>T, XM_005254992.1:c.1501C>T, XM_005254993.1:c.1450C>T, XM_005254994.1:c.1294C>T, XM_005254995.1:c.1084-7980C>T, XM_011522203.1:c.1528C>T, XM_011522204.1:c.1528C>T, XM_011522205.1:c.1528C>T, XM_011522206.1:c.1528C>T, XM_011522207.1:c.1528C>T, XM_011522208.1:c.1501C>T, XM_011522209.1:c.1450C>T, XM_011522210.1:c.1528C>T, XM_011522211.1:c.1294C>T, XM_011522212.1:c.1528C>T, XM_011522213.1:c.1528C>T, XM_011522214.1:c.1528C>T, XM_011522215.1:c.1084-7980C>T, XM_011522216.1:c.1294C>T, XM_011522217.1:c.1084-7980C>T, XP_005255045.1:p.Arg510Cys, XP_005255046.1:p.Arg510Cys, XP_005255047.1:p.Arg510Cys, XP_005255048.1:p.Arg510Cys, XP_005255049.1:p.Arg501Cys, XP_005255050.1:p.Arg484Cys, XP_005255051.1:p.Arg432Cys, XP_011520505.1:p.Arg510Cys, XP_011520506.1:p.Arg510Cys, XP_011520507.1:p.Arg510Cys, XP_011520508.1:p.Arg510Cys, XP_011520509.1:p.Arg510Cys, XP_011520510.1:p.Arg501Cys, XP_011520511.1:p.Arg484Cys, XP_011520512.1:p.Arg510Cys, XP_011520513.1:p.Arg432Cys, XP_011520514.1:p.Arg510Cys, XP_011520515.1:p.Arg510Cys, XP_011520516.1:p.Arg510Cys, XP_011520518.1:p.Arg432Cys, XR_931944.1:n.1603C>T, rs17222400, rs56742164
C > T
SNP
R510C
No VIP available No Clinical Annotations available VA
rs2242048 NC_000015.10:g.84935179A>G, NC_000015.9:g.85478410A>G, NM_001287761.1:c.1084-8266A>G, NM_001287762.1:c.1368A>G, NM_004213.4:c.1368A>G, NP_001274691.1:p.Gln456=, NP_004204.3:p.Gln456=, XM_005254988.1:c.1368A>G, XM_005254989.1:c.1368A>G, XM_005254990.1:c.1368A>G, XM_005254991.1:c.1368A>G, XM_005254992.1:c.1341A>G, XM_005254993.1:c.1290A>G, XM_005254994.1:c.1134A>G, XM_005254995.1:c.1084-8266A>G, XM_011522203.1:c.1368A>G, XM_011522204.1:c.1368A>G, XM_011522205.1:c.1368A>G, XM_011522206.1:c.1368A>G, XM_011522207.1:c.1368A>G, XM_011522208.1:c.1341A>G, XM_011522209.1:c.1290A>G, XM_011522210.1:c.1368A>G, XM_011522211.1:c.1134A>G, XM_011522212.1:c.1368A>G, XM_011522213.1:c.1368A>G, XM_011522214.1:c.1368A>G, XM_011522215.1:c.1084-8266A>G, XM_011522216.1:c.1134A>G, XM_011522217.1:c.1084-8266A>G, XP_005255045.1:p.Gln456=, XP_005255046.1:p.Gln456=, XP_005255047.1:p.Gln456=, XP_005255048.1:p.Gln456=, XP_005255049.1:p.Gln447=, XP_005255050.1:p.Gln430=, XP_005255051.1:p.Gln378=, XP_011520505.1:p.Gln456=, XP_011520506.1:p.Gln456=, XP_011520507.1:p.Gln456=, XP_011520508.1:p.Gln456=, XP_011520509.1:p.Gln456=, XP_011520510.1:p.Gln447=, XP_011520511.1:p.Gln430=, XP_011520512.1:p.Gln456=, XP_011520513.1:p.Gln378=, XP_011520514.1:p.Gln456=, XP_011520515.1:p.Gln456=, XP_011520516.1:p.Gln456=, XP_011520518.1:p.Gln378=, XR_931944.1:n.1443A>G, rs17216009, rs17609296, rs386562297, rs60098916
A > G
SNP
Q456Q
No VIP available CA VA
rs2284449 NC_000011.10:g.4099619T>C, NC_000011.9:g.4120849T>C, NG_027992.2:g.9926T>C, NM_001033.3:c.20-2374T>C, NM_001033.4:c.20-2374T>C, NM_001318064.1:c.-94-2374T>C, XM_005253058.1:c.20-2374T>C, XM_005253059.1:c.-94-2374T>C, XM_011520277.1:c.-94-2374T>C, rs52806873
T > C
SNP
No VIP available No Clinical Annotations available VA
rs2290272 NC_000015.10:g.84904200G>A, NC_000015.9:g.85447431G>A, NM_001287761.1:c.565G>A, NM_001287762.1:c.565G>A, NM_004213.4:c.565G>A, NP_001274690.1:p.Val189Ile, NP_001274691.1:p.Val189Ile, NP_004204.3:p.Val189Ile, XM_005254988.1:c.565G>A, XM_005254989.1:c.565G>A, XM_005254990.1:c.565G>A, XM_005254991.1:c.565G>A, XM_005254992.1:c.538G>A, XM_005254993.1:c.565G>A, XM_005254994.1:c.331G>A, XM_005254995.1:c.565G>A, XM_011522203.1:c.565G>A, XM_011522204.1:c.565G>A, XM_011522205.1:c.565G>A, XM_011522206.1:c.565G>A, XM_011522207.1:c.565G>A, XM_011522208.1:c.538G>A, XM_011522209.1:c.565G>A, XM_011522210.1:c.565G>A, XM_011522211.1:c.331G>A, XM_011522212.1:c.565G>A, XM_011522213.1:c.565G>A, XM_011522214.1:c.565G>A, XM_011522215.1:c.565G>A, XM_011522216.1:c.331G>A, XM_011522217.1:c.565G>A, XM_011522218.1:c.565G>A, XP_005255045.1:p.Val189Ile, XP_005255046.1:p.Val189Ile, XP_005255047.1:p.Val189Ile, XP_005255048.1:p.Val189Ile, XP_005255049.1:p.Val180Ile, XP_005255050.1:p.Val189Ile, XP_005255051.1:p.Val111Ile, XP_005255052.1:p.Val189Ile, XP_011520505.1:p.Val189Ile, XP_011520506.1:p.Val189Ile, XP_011520507.1:p.Val189Ile, XP_011520508.1:p.Val189Ile, XP_011520509.1:p.Val189Ile, XP_011520510.1:p.Val180Ile, XP_011520511.1:p.Val189Ile, XP_011520512.1:p.Val189Ile, XP_011520513.1:p.Val111Ile, XP_011520514.1:p.Val189Ile, XP_011520515.1:p.Val189Ile, XP_011520516.1:p.Val189Ile, XP_011520517.1:p.Val189Ile, XP_011520518.1:p.Val111Ile, XP_011520519.1:p.Val189Ile, XP_011520520.1:p.Val189Ile, XR_931944.1:n.771G>A, XR_931945.1:n.771G>A, rs17222253, rs17536477, rs386563851, rs52799974, rs58773874
G > A
SNP
V189I
No VIP available CA VA
rs232043 NC_000011.10:g.4117895G>A, NC_000011.9:g.4139125G>A, NG_027992.2:g.28202G>A, NM_001033.3:c.651-425G>A, NM_001033.4:c.651-425G>A, NM_001318064.1:c.360-425G>A, NM_001318065.1:c.-406-425G>A, XM_005253058.1:c.408-425G>A, XM_005253059.1:c.360-425G>A, XM_011520277.1:c.360-425G>A, XM_011520278.1:c.-16-425G>A, XM_011520279.1:c.-406-425G>A, rs1662167
G > A
SNP
No VIP available No Clinical Annotations available VA
rs25487 NC_000019.10:g.43551574T>C, NC_000019.9:g.44055726T>C, NG_033799.1:g.29005A>G, NM_006297.2:c.1196A>G, NP_006288.2:p.Gln399Arg, rs11553658, rs17435395, rs3817410, rs386493716, rs57378728
T > C
SNP
Q399R
No VIP available No Clinical Annotations available VA
rs2550731 NC_000016.10:g.79010752G>T, NC_000016.9:g.79044649G>T, NG_011698.1:g.916099G>T, NM_001291997.1:c.718-200856G>T, NM_016373.3:c.1057-200856G>T, XM_005255980.1:c.410-200856G>T, XM_005255981.1:c.718-200856G>T, XM_005255982.1:c.517-200856G>T, XM_011523100.1:c.1153-200856G>T, XM_011523103.1:c.*29-200856G>T, XR_243411.1:n.1336+14396G>T, rs17711395, rs56829687
G > T
SNP
No VIP available CA VA
rs274713 NC_000005.10:g.6723447T>G, NC_000005.9:g.6723560T>G, NM_001171805.1:c.-35+8748T>G, NM_006999.4:c.-35+8748T>G, XM_005248234.1:c.716+8748T>G, XM_005248234.2:c.716+8748T>G, XM_005248236.1:c.-35+8748T>G, XM_011513946.1:c.-35+8328T>G, XM_011513947.1:c.-35+8505T>G, rs1456968, rs61340760, rs61577976
T > G
SNP
No VIP available CA VA
rs274717 NC_000005.10:g.6720954A>G, NC_000005.9:g.6721067A>G, NM_001171805.1:c.-35+6255A>G, NM_006999.4:c.-35+6255A>G, XM_005248234.1:c.716+6255A>G, XM_005248234.2:c.716+6255A>G, XM_005248236.1:c.-35+6255A>G, XM_011513946.1:c.-35+5835A>G, XM_011513947.1:c.-35+6012A>G, rs58480177
A > G
SNP
No VIP available No Clinical Annotations available VA
rs28371759 NC_000007.13:g.99361626A>G, NC_000007.14:g.99764003A>G, NG_008421.1:g.25183T>C, NM_001202855.2:c.875T>C, NM_017460.5:c.878T>C, NP_001189784.1:p.Leu292Pro, NP_059488.2:p.Leu293Pro, XM_011515841.1:c.878T>C, XM_011515842.1:c.875T>C, XP_011514143.1:p.Leu293Pro, XP_011514144.1:p.Leu292Pro, rs386574775, rs60608883
A > G
SNP
L292P
No VIP available No Clinical Annotations available VA
rs2900174 NC_000012.11:g.11547532A>G, NC_000012.12:g.11394598A>G, NM_006248.3:c.65-68T>C, XM_005253473.1:c.65-68T>C, rs58911820
A > G
SNP
No VIP available No Clinical Annotations available VA
rs306104 NC_000005.10:g.111295567T>C, NC_000005.9:g.110631265T>C, NM_001744.4:c.162-48457T>C, XM_005272094.1:c.-284-48457T>C, XR_948301.1:n.220-48457T>C, XR_948302.1:n.220-48457T>C, XR_948303.1:n.220-48457T>C, rs17522730, rs59551416
T > C
SNP
No VIP available No Clinical Annotations available VA
rs324148 NC_000006.11:g.44196578T>C, NC_000006.12:g.44228841T>C, NG_042893.1:g.14337T>C, NM_001078174.1:c.30-549T>C, NM_001078175.2:c.30-549T>C, NM_001078176.2:c.30-549T>C, NM_001078177.1:c.30-549T>C, NM_001304462.1:c.267-549T>C, NM_001304463.1:c.156-549T>C, NM_001304465.1:c.108-549T>C, NM_001304466.1:c.105-549T>C, NM_004955.2:c.30-549T>C, XM_005248875.1:c.267-549T>C, XM_005248876.1:c.159-549T>C, XM_005248876.3:c.159-549T>C, XM_005248877.1:c.156-549T>C, XM_005248878.1:c.30-549T>C, XM_005248878.3:c.30-549T>C, XM_005248879.1:c.30-549T>C, XM_005248879.3:c.30-549T>C, XM_005248880.1:c.30-549T>C, XM_005248880.3:c.30-549T>C, XM_005248881.1:c.30-549T>C, XM_005248881.3:c.30-549T>C, XM_005248882.1:c.30-549T>C, XM_005248882.3:c.30-549T>C, XM_011514341.1:c.270-549T>C, rs17459033, rs3778506, rs56481573, rs58552437, rs632264
T > C
SNP
No VIP available No Clinical Annotations available VA
rs34489327
TTAAAG > -
unknown
No VIP available CA VA
rs35687416 NC_000001.10:g.47834209G>T, NC_000001.11:g.47368537G>T, NM_001136140.1:c.172-4418G>T, NM_016308.2:c.240G>T, NP_057392.1:p.Gln80His, NR_046394.1:n.389G>T
G > -
G > T
SNP
Q80H
No VIP available No Clinical Annotations available VA
rs35932500 NC_000004.11:g.183836148T>C, NC_000004.12:g.182914995T>C, NM_001012732.1:c.205A>G, NM_001921.2:c.172A>G, NP_001012750.1:p.Asn69Asp, NP_001912.2:p.Asn58Asp, XM_005262778.1:c.205A>G, XM_005262778.2:c.205A>G, XM_005262779.1:c.172A>G, XM_005262779.2:c.172A>G, XM_005262780.1:c.172A>G, XM_005262780.2:c.172A>G, XM_005262781.1:c.67+466A>G, XM_005262781.3:c.67+466A>G, XM_005262782.1:c.67+466A>G, XM_005262782.2:c.67+466A>G, XM_006714115.2:c.67+466A>G, XM_006714116.2:c.67+466A>G, XM_011531674.1:c.172A>G, XM_011531675.1:c.67+466A>G, XM_011531676.1:c.67+466A>G, XM_011531677.1:c.67+466A>G, XP_005262835.1:p.Asn69Asp, XP_005262836.1:p.Asn58Asp, XP_005262837.1:p.Asn58Asp, XP_011529976.1:p.Asn58Asp
T > C
SNP
N69D
No VIP available CA VA
rs370457585 NC_000001.10:g.40126852C>G, NC_000001.10:g.40126852C>T, NC_000001.11:g.39661180C>G, NC_000001.11:g.39661180C>T, NM_032526.2:c.640G>A, NM_032526.2:c.640G>C, NP_115915.1:p.Ala214Pro, NP_115915.1:p.Ala214Thr
C > G
C > T
SNP
A214P/T
No VIP available CA VA
rs374150125 NC_000001.10:g.40129002G>A, NC_000001.11:g.39663330G>A, NM_032526.2:c.538C>T, NP_115915.1:p.Arg180Ter
G > A
SNP
R180*
No VIP available No Clinical Annotations available VA
rs3744311 NC_000017.10:g.70407856C>T, NC_000017.11:g.72411715C>T, NR_036488.1:n.763-6899G>A, rs59108493
C > T
SNP
No VIP available CA VA
rs3750117 NC_000007.13:g.33060946A>G, NC_000007.14:g.33021334A>G, NG_015800.1:g.46464T>C, NM_001002009.2:c.276T>C, NM_001002010.2:c.393T>C, NM_001166118.2:c.240T>C, NM_016489.12:c.276T>C, NP_001002009.1:p.Tyr92=, NP_001002010.1:p.Tyr131=, NP_001159590.1:p.Tyr80=, NP_057573.2:p.Tyr92=, XM_011515409.1:c.240T>C, XP_011513711.1:p.Tyr80=, rs11547832, rs17851350, rs57965368
A > G
SNP
Y92Y
No VIP available No Clinical Annotations available VA
rs3775289 NC_000004.11:g.71862674T>C, NC_000004.12:g.70996957T>C, NG_023303.1:g.8410T>C, NM_000788.2:c.92-1110T>C, rs58983292
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3778504 NC_000006.11:g.44189200G>A, NC_000006.12:g.44221463G>A, NG_042893.1:g.6959G>A, NM_001078174.1:c.-55+1681G>A, NM_001304462.1:c.87-123G>A, NM_001304465.1:c.24+1681G>A, NM_001304466.1:c.24+1681G>A, NM_004955.2:c.-52+1681G>A, XM_005248875.1:c.87-123G>A, XM_005248878.1:c.-159+1681G>A, XM_005248878.3:c.-159+1681G>A, XM_011514341.1:c.87-123G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs3817657 NC_000011.10:g.4121362T>C, NC_000011.9:g.4142592T>C, NG_027992.2:g.31669T>C, NM_001033.3:c.877-242T>C, NM_001033.4:c.877-242T>C, NM_001318064.1:c.586-242T>C, NM_001318065.1:c.-138-242T>C, XM_005253058.1:c.634-242T>C, XM_005253059.1:c.586-242T>C, XM_011520277.1:c.586-242T>C, XM_011520278.1:c.211-242T>C, XM_011520279.1:c.-138-242T>C, rs57325561
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3925058 NC_000001.10:g.47797623G>A, NC_000001.11:g.47331951G>A, NM_001136140.1:c.-1995G>A, NM_016308.2:c.-1995G>A, NR_046394.1:n.-1846G>A, NR_046395.1:n.-1846G>A, rs56798655, rs58968680
G > A
SNP
No VIP available CA VA
rs4353229 NC_000010.10:g.115489589T>C, NC_000010.11:g.113729830T>C, NM_001227.4:c.*290T>C, NM_001267056.1:c.*290T>C, NM_001267057.1:c.*290T>C, NM_001267058.1:c.*290T>C, NM_033338.5:c.*290T>C, NM_033339.4:c.*290T>C, NM_033340.3:c.*406T>C, XM_006718017.2:c.*290T>C, XM_006718018.1:c.*290T>C, XM_011540259.1:c.*290T>C, XM_011540260.1:c.*290T>C, rs57355355
T > C
SNP
No VIP available CA VA
rs4492666 NC_000001.10:g.47800845A>C, NC_000001.11:g.47335173A>C, NM_001136140.1:c.171+1057A>C, NM_016308.2:c.171+1057A>C, NR_046394.1:n.320+1057A>C, NR_046395.1:n.320+1057A>C, rs61400292
A > C
A > T
SNP
No VIP available CA VA
rs451774 NC_000006.11:g.28502550A>G, NC_000006.12:g.28534773A>G, NM_001509.2:c.*606A>G, NM_003996.3:c.*851A>G, NT_113891.2:g.24754A>G, NT_113891.3:g.24654A>G, XM_011514527.1:c.*606A>G, XM_011514528.1:c.*606A>G, XM_011514529.1:c.*606A>G, XM_011514530.1:c.*606A>G, XM_011547233.1:c.*606A>G, XM_011547234.1:c.*606A>G, XM_011547235.1:c.*606A>G, XM_011547236.1:c.*606A>G, rs115878751, rs118080793, rs60258350
A > G
SNP
No VIP available No Clinical Annotations available VA
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]
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
microsatellite
No VIP available No Clinical Annotations available VA
rs4655226 NC_000001.10:g.20928284C>T, NC_000001.11:g.20601791C>T, NM_001785.2:c.155-3137C>T
C > T
SNP
No VIP available CA VA
rs4694362 NC_000004.11:g.71893864C>T, NC_000004.12:g.71028147C>T, NG_023303.1:g.39600C>T, NM_000788.2:c.757-1205C>T, XM_005265649.1:c.574-1205C>T, rs17687207, rs57682199, rs59821207
C > T
SNP
No VIP available No Clinical Annotations available VA
rs4742 NC_000004.11:g.183815688A>G, NC_000004.12:g.182894535A>G, NM_001012732.1:c.348T>C, NM_001921.2:c.315T>C, NP_001012750.1:p.Val116=, NP_001912.2:p.Val105=, XM_005262778.1:c.348T>C, XM_005262778.2:c.348T>C, XM_005262779.1:c.315T>C, XM_005262779.2:c.315T>C, XM_005262780.1:c.315T>C, XM_005262780.2:c.315T>C, XM_005262781.1:c.138T>C, XM_005262781.3:c.138T>C, XM_005262782.1:c.138T>C, XM_005262782.2:c.138T>C, XM_006714115.2:c.138T>C, XM_006714116.2:c.138T>C, XM_011531674.1:c.315T>C, XM_011531675.1:c.138T>C, XM_011531676.1:c.138T>C, XM_011531677.1:c.138T>C, XP_005262835.1:p.Val116=, XP_005262836.1:p.Val105=, XP_005262837.1:p.Val105=, XP_005262838.1:p.Val46=, XP_005262839.1:p.Val46=, XP_006714178.1:p.Val46=, XP_006714179.1:p.Val46=, XP_011529976.1:p.Val105=, XP_011529977.1:p.Val46=, XP_011529978.1:p.Val46=, XP_011529979.1:p.Val46=, rs1130879, rs117549811, rs17849459, rs3190286, rs57636648, rs7663494
A > G
SNP
V116V
No VIP available No Clinical Annotations available VA
rs4769060 NC_000013.10:g.31337877A>G, NC_000013.11:g.30763740A>G, NG_011963.2:g.55263A>G, NM_001204406.1:c.495-204A>G, NM_001629.3:c.324-204A>G, XM_011535025.1:c.204-204A>G, rs17222884, rs17239011, rs17691338, rs52817103
A > G
SNP
No VIP available No Clinical Annotations available VA
rs4785367 NC_000016.10:g.49922283T>C, NC_000016.9:g.49956194T>C, rs17212873, rs57920223
T > C
SNP
No VIP available No Clinical Annotations available VA
rs4877831 NC_000009.11:g.86899884C>G, NC_000009.12:g.84284969C>G, NM_001199633.1:c.1647+376G>C, NM_022127.2:c.1647+376G>C, NR_037638.2:n.1969+376G>C, XM_011518905.1:c.1731+376G>C, XM_011518906.1:c.1731+376G>C, XM_011518907.1:c.1398+376G>C, XM_011518908.1:c.1008+376G>C, XR_929832.1:n.1838+376G>C, XR_930033.1:n.88-4073C>G, rs60234702
C > A
C > G
SNP
No VIP available No Clinical Annotations available VA
rs487989 NC_000011.10:g.65297219G>A, NC_000011.9:g.65064690G>A, NM_002689.3:c.1747G>A, NP_002680.2:p.Gly583Arg, XM_011544877.1:c.1647+1229G>A, XM_011544878.1:c.1647+1229G>A, XM_011544879.1:c.*114G>A, XM_011544880.1:c.*14+1229G>A, XM_011544881.1:c.*15-453G>A, rs1211593, rs3881265, rs57424239
G > A
SNP
G583R
No VIP available No Clinical Annotations available VA
rs490332 NC_000005.10:g.176738085A>G, NC_000005.9:g.176165086A>G, rs58795966
A > G
SNP
No VIP available No Clinical Annotations available VA
rs5925720 NC_000023.10:g.23019317G>T, NC_000023.11:g.23001200G>T, NG_021439.1:g.6231G>T, NM_182699.3:c.1143G>T, NP_874358.2:p.Met381Ile, NR_073010.1:n.343+62838C>A, rs58250497
G > T
SNP
M381I
No VIP available CA VA
rs60369023 NC_000001.10:g.20931474G>A, NC_000001.11:g.20604981G>A, NM_001785.2:c.208G>A, NP_001776.1:p.Ala70Thr
G > A
SNP
A70T
No VIP available CA VA
rs642990 NC_000001.10:g.54688516T>C, NC_000001.11:g.54222843T>C, XM_005270920.1:c.1195-2282T>C, XM_005270920.2:c.1195-2282T>C, rs12731643, rs1768482, rs57078995
T > C
SNP
No VIP available CA VA
rs66878317 NC_000004.11:g.71859622A>G, NC_000004.12:g.70993905A>G, NG_023303.1:g.5358A>G, NM_000788.2:c.70A>G, NP_000779.1:p.Ile24Val, rs66878318, rs66878319
A > G
SNP
I24V
No VIP available No Clinical Annotations available VA
rs6946062 NC_000007.13:g.33083107T>C, NC_000007.14:g.33043495T>C, NG_015800.1:g.24303A>G, NM_001002009.2:c.-19-7507A>G, NM_001002010.2:c.154-16580A>G, XM_011515409.1:c.-2760A>G, rs11486834, rs58957921
T > C
SNP
No VIP available No Clinical Annotations available VA
rs7149097 NC_000014.8:g.103539669A>G, NC_000014.9:g.103073332A>G, rs59694000
A > G
SNP
No VIP available No Clinical Annotations available 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
rs720106 NC_000011.10:g.4118748T>C, NC_000011.9:g.4139978T>C, NG_027992.2:g.29055T>C, NM_001033.3:c.792+287T>C, NM_001033.4:c.792+287T>C, NM_001318064.1:c.501+287T>C, NM_001318065.1:c.-265+287T>C, XM_005253058.1:c.549+287T>C, XM_005253059.1:c.501+287T>C, XM_011520277.1:c.501+287T>C, XM_011520278.1:c.126+287T>C, XM_011520279.1:c.-265+287T>C
T > C
SNP
No VIP available No Clinical Annotations available VA
rs725518 NC_000011.10:g.4107615G>A, NC_000011.9:g.4128845G>A, NG_027992.2:g.17922G>A, NM_001033.3:c.387+80G>A, NM_001033.4:c.387+80G>A, NM_001318064.1:c.96+80G>A, XM_005253058.1:c.202+1476G>A, XM_005253059.1:c.96+80G>A, XM_011520277.1:c.96+80G>A, rs17423023, rs386608733, rs61333041
G > A
SNP
No VIP available CA VA
rs73748206 NC_000006.11:g.35607955C>T, NC_000006.12:g.35640178C>T, NG_012645.2:g.93406G>A, NM_001145775.2:c.105+2542G>A, NM_001145776.1:c.105+2542G>A, NM_001145777.1:c.105+2542G>A, NM_004117.3:c.105+2542G>A, XR_926743.1:n.287+6358C>T
C > T
SNP
No VIP available CA 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 CA VA
rs7543016 NC_000001.10:g.47799639G>C, NC_000001.11:g.47333967G>C, NM_001136140.1:c.22G>C, NM_016308.2:c.22G>C, NP_001129612.1:p.Gly8Arg, NP_057392.1:p.Gly8Arg, NR_046394.1:n.171G>C, NR_046395.1:n.171G>C, rs17856470
G > -
G > C
SNP
G8R
No VIP available CA VA
rs760370 NC_000006.11:g.44200953A>G, NC_000006.12:g.44233216A>G, NG_042893.1:g.18712A>G, NM_001078174.1:c.1260-201A>G, NM_001078175.2:c.1260-201A>G, NM_001078176.2:c.1260-201A>G, NM_001078177.1:c.1260-201A>G, NM_001304462.1:c.1497-201A>G, NM_001304463.1:c.1386-201A>G, NM_001304465.1:c.1338-201A>G, NM_001304466.1:c.1335-201A>G, NM_004955.2:c.1260-201A>G, XM_005248875.1:c.1497-201A>G, XM_005248876.1:c.1389-201A>G, XM_005248876.3:c.1389-201A>G, XM_005248877.1:c.1386-201A>G, XM_005248878.1:c.1260-201A>G, XM_005248878.3:c.1260-201A>G, XM_005248879.1:c.1260-201A>G, XM_005248879.3:c.1260-201A>G, XM_005248880.1:c.1260-201A>G, XM_005248880.3:c.1260-201A>G, XM_005248881.1:c.1260-201A>G, XM_005248881.3:c.1260-201A>G, XM_005248882.1:c.1260-201A>G, XM_005248882.3:c.1260-201A>G, XM_011514341.1:c.1500-201A>G, rs59700015
A > G
SNP
No VIP available No Clinical Annotations available VA
rs763780 NC_000006.11:g.52101739T>C, NC_000006.12:g.52236941T>C, NG_031869.1:g.12560A>G, NM_052872.3:c.482A>G, NP_443104.1:p.His161Arg, XM_011514276.1:c.482A>G, XP_011512578.1:p.His161Arg, XR_926873.1:n.-173T>C, rs56499381, rs57501176
T > C
SNP
H161R
No VIP available No Clinical Annotations available VA
rs7712169 NC_000005.10:g.12383830G>A, NC_000005.9:g.12383942G>A, XR_925792.1:n.265-15836C>T, rs59425486
G > A
SNP
No VIP available No Clinical Annotations available VA
rs776746 NC_000007.13:g.99270539C>T, NC_000007.14:g.99672916T>C, NG_007938.1:g.12083G=, NG_007938.1:g.12083G>A, NM_000777.4:c.219-237A>G, NM_000777.4:c.219-237G>A, NM_001190484.2:c.219-237A>G, NM_001190484.2:c.219-237G>A, NM_001291829.1:c.-253-1A>G, NM_001291829.1:c.-253-1G>A, NM_001291830.1:c.189-237A>G, NM_001291830.1:c.189-237G>A, NR_033807.2:n.717-1A>G, NR_033807.2:n.717-1G>A, NR_033808.1:n.689-1G>A, NR_033809.1:n.581-237G>A, NR_033810.1:n.689-1G>A, NR_033811.1:n.321-1G>A, NR_033812.1:n.321-1G>A, XM_005250169.1:c.189-237G>A, XM_005250170.1:c.-357-1G>A, XM_005250171.1:c.-253-1G>A, XM_005250172.1:c.-254G>A, XM_005250173.1:c.-331-237G>A, XM_005250198.1:c.806-4288C>T, XM_006715859.2:c.219-237A>G, XM_011515843.1:c.-254A>G, XM_011515844.1:c.-229-237A>G, XM_011515845.1:c.-463-1A>G, XM_011515846.1:c.-331-237A>G, XM_011515847.1:c.-571-1A>G, XR_927383.1:n.344-237A>G, XR_927402.1:n.1466+48736T>C, rs10361242, rs11266830, rs386613022, rs58244770
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7771466 NC_000006.11:g.52104109C>A, NC_000006.12:g.52239311C>A, NG_031869.1:g.10190G>T, NM_052872.3:c.34-361G>T, XM_011514276.1:c.34-361G>T, XR_926873.1:n.792C>A, rs61434221
C > A
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7853758 NC_000009.11:g.86900926G>A, NC_000009.12:g.84286011G>A, NM_001199633.1:c.1381C>T, NM_022127.2:c.1381C>T, NP_001186562.1:p.Leu461=, NP_071410.1:p.Leu461=, NR_037638.2:n.1703C>T, XM_011518905.1:c.1465C>T, XM_011518906.1:c.1465C>T, XM_011518907.1:c.1132C>T, XM_011518908.1:c.742C>T, XP_011517207.1:p.Leu489=, XP_011517208.1:p.Leu489=, XP_011517209.1:p.Leu378=, XP_011517210.1:p.Leu248=, XR_929832.1:n.1572C>T, XR_930033.1:n.88-3031G>A, rs59483082, rs59559753
G > A
SNP
L461L
No VIP available CA VA
rs7867504 NC_000009.11:g.86920236T>C, NC_000009.12:g.84305321T>C, NM_001199633.1:c.267A>G, NM_022127.2:c.267A>G, NP_001186562.1:p.Thr89=, NP_071410.1:p.Thr89=, NR_037638.2:n.589A>G, XM_011518905.1:c.419-2932A>G, XM_011518906.1:c.419-2932A>G, XM_011518907.1:c.86-2932A>G, XM_011518909.1:c.419-2932A>G, XM_011518910.1:c.419-2932A>G, XR_929832.1:n.546-2932A>G, rs386613708, rs60110305
T > -
T > C
SNP
T89T
No VIP available CA VA
rs7921977 NC_000010.10:g.115439569C>T, NC_000010.11:g.113679810C>T, NM_001227.4:c.-169C>T, NM_001267056.1:c.-1+461C>T, NM_001267057.1:c.56C>T, NM_033338.5:c.-177C>T, NM_033339.4:c.-243C>T, NM_033340.3:c.-1+461C>T, NP_001253986.1:p.Thr19Ile, XM_006718018.1:c.-8+461C>T, rs386479493, rs56841072
C > T
SNP
T19I
No VIP available No Clinical Annotations available VA
rs7940013 NC_000011.10:g.4117074C>T, NC_000011.9:g.4138304C>T, NG_027992.2:g.27381C>T, NM_001033.3:c.651-1246C>T, NM_001033.4:c.651-1246C>T, NM_001318064.1:c.360-1246C>T, NM_001318065.1:c.-407+714C>T, XM_005253058.1:c.408-1246C>T, XM_005253059.1:c.360-1246C>T, XM_011520277.1:c.360-1246C>T, XM_011520278.1:c.-17+714C>T, XM_011520279.1:c.-407+714C>T, rs59381386, rs61670155
C > T
SNP
No VIP available No Clinical Annotations available VA
rs814951 NC_000001.10:g.190531999C>T, NC_000001.11:g.190562869C>T, rs386615645, rs58171216
C > T
SNP
No VIP available No Clinical Annotations available VA
rs818194 NC_000001.10:g.20931828A>T, NC_000001.11:g.20605335A>T, NM_001785.2:c.266+296A>T, rs2934357, rs74312953
A > T
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
rs8187758 NC_000015.10:g.84905644C>A, NC_000015.9:g.85448875C>A, NM_001287761.1:c.709C>A, NM_001287762.1:c.709C>A, NM_004213.4:c.709C>A, NP_001274690.1:p.Gln237Lys, NP_001274691.1:p.Gln237Lys, NP_004204.3:p.Gln237Lys, XM_005254988.1:c.709C>A, XM_005254989.1:c.709C>A, XM_005254990.1:c.709C>A, XM_005254991.1:c.709C>A, XM_005254992.1:c.682C>A, XM_005254993.1:c.709C>A, XM_005254994.1:c.475C>A, XM_005254995.1:c.709C>A, XM_011522203.1:c.709C>A, XM_011522204.1:c.709C>A, XM_011522205.1:c.709C>A, XM_011522206.1:c.709C>A, XM_011522207.1:c.709C>A, XM_011522208.1:c.682C>A, XM_011522209.1:c.709C>A, XM_011522210.1:c.709C>A, XM_011522211.1:c.475C>A, XM_011522212.1:c.709C>A, XM_011522213.1:c.709C>A, XM_011522214.1:c.709C>A, XM_011522215.1:c.709C>A, XM_011522216.1:c.475C>A, XM_011522217.1:c.709C>A, XM_011522218.1:c.709C>A, XP_005255045.1:p.Gln237Lys, XP_005255046.1:p.Gln237Lys, XP_005255047.1:p.Gln237Lys, XP_005255048.1:p.Gln237Lys, XP_005255049.1:p.Gln228Lys, XP_005255050.1:p.Gln237Lys, XP_005255051.1:p.Gln159Lys, XP_005255052.1:p.Gln237Lys, XP_011520505.1:p.Gln237Lys, XP_011520506.1:p.Gln237Lys, XP_011520507.1:p.Gln237Lys, XP_011520508.1:p.Gln237Lys, XP_011520509.1:p.Gln237Lys, XP_011520510.1:p.Gln228Lys, XP_011520511.1:p.Gln237Lys, XP_011520512.1:p.Gln237Lys, XP_011520513.1:p.Gln159Lys, XP_011520514.1:p.Gln237Lys, XP_011520515.1:p.Gln237Lys, XP_011520516.1:p.Gln237Lys, XP_011520517.1:p.Gln237Lys, XP_011520518.1:p.Gln159Lys, XP_011520519.1:p.Gln237Lys, XP_011520520.1:p.Gln237Lys, XR_931944.1:n.915C>A, XR_931945.1:n.915C>A, rs17222323, rs52791431, rs60871224
C > A
SNP
Q237K
No VIP available CA VA
rs9394992 NC_000006.11:g.44195992C>T, NC_000006.12:g.44228255C>T, NG_042893.1:g.13751C>T, NM_001078174.1:c.29+913C>T, NM_001078175.2:c.29+913C>T, NM_001078176.2:c.29+913C>T, NM_001078177.1:c.29+913C>T, NM_001304462.1:c.266+913C>T, NM_001304463.1:c.155+913C>T, NM_001304465.1:c.107+913C>T, NM_001304466.1:c.104+913C>T, NM_004955.2:c.29+913C>T, XM_005248875.1:c.266+913C>T, XM_005248876.1:c.158+913C>T, XM_005248876.3:c.158+913C>T, XM_005248877.1:c.155+913C>T, XM_005248878.1:c.29+913C>T, XM_005248878.3:c.29+913C>T, XM_005248879.1:c.29+913C>T, XM_005248879.3:c.29+913C>T, XM_005248880.1:c.29+913C>T, XM_005248880.3:c.29+913C>T, XM_005248881.1:c.29+913C>T, XM_005248881.3:c.29+913C>T, XM_005248882.1:c.29+913C>T, XM_005248882.3:c.29+913C>T, XM_011514341.1:c.269+913C>T, rs57559510
C > T
SNP
No VIP available CA VA
rs944050 NC_000014.8:g.64700045T>C, NC_000014.9:g.64233327T>C, NG_011535.1:g.110224A>G, NM_001040275.1:c.1406+1643A>G, NM_001214902.1:c.1406+1643A>G, NM_001271876.1:c.1406+1643A>G, NM_001271877.1:c.1134-4A>G, NM_001291712.1:c.1406+1643A>G, NM_001291723.1:c.1406+1643A>G, NM_001437.2:c.1407-4A>G, NR_073496.1:n.2010+1643A>G, NR_073497.1:n.1375-4A>G, NR_073505.1:n.2149+1643A>G, XM_011536545.1:c.1406+1643A>G, XM_011536546.1:c.1407-4A>G, rs58894804
T > C
SNP
No VIP available CA VA
rs992160 NC_000006.11:g.44354641C>T, NC_000006.12:g.44386904C>T, NM_001253.3:c.-920C>T, XM_005249506.1:c.-920C>T, XM_006715289.2:c.-920C>T, XR_926346.1:n.-788C>T
C > T
SNP
No VIP available CA VA
rs9937 NC_000011.10:g.4138227A>G, NC_000011.9:g.4159457A>G, NG_027992.2:g.48534A>G, NM_001033.3:c.2223A>G, NM_001033.4:c.2223A>G, NM_001318064.1:c.1932A>G, NM_001318065.1:c.1209A>G, NP_001024.1:p.Thr741=, NP_001304993.1:p.Thr644=, NP_001304994.1:p.Thr403=, XM_005253058.1:c.1980A>G, XM_005253059.1:c.1932A>G, XM_011520277.1:c.1932A>G, XM_011520278.1:c.1557A>G, XM_011520279.1:c.1209A>G, XP_005253115.1:p.Thr660=, XP_005253116.1:p.Thr644=, XP_011518579.1:p.Thr644=, XP_011518580.1:p.Thr519=, XP_011518581.1:p.Thr403=, rs1042857, rs17295553, rs17349998, rs17398272, rs17850106, rs2228120, rs3177016, rs59628733
A > G
SNP
T741T
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
Trade Names
  • DDFC
  • DFDC
  • GEO
  • Gemcin
  • Gemcitabina [INN-Spanish]
  • Gemcitabine HCl
  • Gemcitabine hydrochloride
  • Gemcitabinum [INN-Latin]
  • Gemtro
  • Gemzar
Brand Mixture Names

PharmGKB Accession Id

PA449748

Type(s):

Prodrug

Metabolite(s):

Description

Gemcitabine is a nucleoside analog used as chemotherapy. It is marketed as Gemzar® by Eli Lilly and Company. As with fluorouracil and other analogues of pyrimidines, the drug replaces one of the building blocks of nucleic acids, in this case cytidine, during DNA replication. The process arrests tumor growth, as new nucleosides cannot be attached to the "faulty" nucleoside, resulting in apoptosis (cellular "suicide").
Gemcitabine is used in various carcinomas: non-small cell lung cancer, pancreatic cancer, bladder cancer and breast cancer. It is being investigated for use in oesophageal cancer, and is used experimentally in lymphomas and various other tumor types.

Source: Drug Bank

Indication

For the first-line treatment of patients with metastatic breast cancer, locally advanced (Stage IIIA or IIIB), or metastatic (Stage IV) non-small cell lung cancer and as first-line treatment for patients with adenocarcinoma of the pancreas.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

Gemcitabine inhibits thymidylate synthetase, leading to inhibition of DNA synthesis and cell death. Gemcitabine is a prodrug so activity occurs as a result of intracellular conversion to two active metabolites, gemcitabine diphosphate and gemcitabine triphosphate by deoxycitidine kinase. Gemcitabine diphosphate also inhibits ribonucleotide reductase, the enzyme responsible for catalyzing synthesis of deoxynucleoside triphosphates required for DNA synthesis. Finally, Gemcitabine triphosphate (diflurorodeoxycytidine triphosphate) competes with endogenous deoxynucleoside triphosphates for incorporation into DNA.

Source: Drug Bank

Pharmacology

Gemcitabine 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 (or DNA synthesis phase of the cell cycle), stopping normal development and division. Gemcitabine blocks an enzyme which converts the cytosine nucleotide into the deoxy derivative. In addition, DNA synthesis is further inhibited because Gemcitabine blocks the incorporation of the thymidine nucleotide into the DNA strand.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Transformed via nucleoside kinases to two active metabolites, gemcitabine diphosphate and gemcitabine triphosphate. Can also undergo deamination via cytidine deaminase to an inactive uracil metabolite (dFdU).

Source: Drug Bank

Protein Binding

Plasma protein binding is negligible (<10%)

Source: Drug Bank

Absorption

100%

Source: Drug Bank

Half-Life

Short infusions ranged from 32 to 94 minutes, and the value for long infusions vary from 245 to 638 minutes, depending on age and gender.

Source: Drug Bank

Toxicity

Myelosuppression, paresthesias, and severe rash were the principal toxicities, LD 50=500 mg/kg (orally in mice and rats)

Source: Drug Bank

Clearance

Source: Drug Bank

Volume of Distribution

Source: Drug Bank

Chemical Properties

Chemical Formula

C9H11F2N3O4

Source: Drug Bank

Isomeric SMILES

c1cn(c(=O)nc1N)[C@H]2C([C@@H]([C@H](O2)CO)O)(F)F

Source: OpenEye

Canonical SMILES

NC1=NC(=O)N(C=C1)[C@@H]1O[C@H]

Source: Drug Bank

Average Molecular Weight

263.1981

Source: Drug Bank

Monoisotopic Molecular Weight

263.071762265

Source: Drug Bank

SMILES

NC1=NC(=O)N(C=C1)[C@@H]1O[C@H](CO)[C@@H](O)C1(F)F

Source: Drug Bank

InChI String

InChI=1S/C9H11F2N3O4/c10-9(11)6(16)4(3-15)18-7(9)14-2-1-5(12)13-8(14)17/h1-2,4,6-7,15-16H,3H2,(H2,12,13,17)/t4-,6-,7-/m1/s1

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Gemcitabine, Pharmacokinetics/Pharmacodynamics Pathway
    Model non-tissue specific cancer cell displaying genes which may be involved in the gemcitabine pathway.

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
CMPK1 (source: Drug Bank )
RRM1 (source: Drug Bank )
TYMS (source: Drug Bank )

Drug Interactions

Interaction Description
paclitaxel - gemcitabine Paclitaxel increases the effect/toxicity of gemcitabine (source: Drug Bank )
paclitaxel - gemcitabine Paclitaxel increases the effect/toxicity of gemcitabine (source: Drug Bank )
trastuzumab - gemcitabine Trastuzumab may increase the risk of neutropenia and anemia. Monitor closely for signs and symptoms of adverse events. (source: Drug Bank )

Curated Information ?

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

May Treat
Contraindicated With

Publications related to gemcitabine: 108

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacokinetics and pharmacogenetics of Gemcitabine as a mainstay in adult and pediatric oncology: an EORTC-PAMM perspective. Cancer chemotherapy and pharmacology. 2016. Ciccolini Joseph, et al. PubMed
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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenetics and genomics. 2016. Saliba Jason, et al. PubMed
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Pharmacogenomics in the treatment of lung cancer: an update. Pharmacogenomics. 2015. Morales-Espinosa Daniela, et al. PubMed
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Using whole exome sequencing to identify genetic markers for carboplatin and gemcitabine-induced toxicities. Clinical cancer research : an official journal of the American Association for Cancer Research. 2015. Green Henrik, et al. PubMed
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Phase I study of olaparib plus gemcitabine in patients with advanced solid tumours and comparison with gemcitabine alone in patients with locally advanced/metastatic pancreatic cancer. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2015. Bendell J, et al. PubMed
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Predicting chemosensitivity to gemcitabine and cisplatin based on gene polymorphisms and mRNA expression in non-small-cell lung cancer cells. Pharmacogenomics. 2015. Meng Xiangning, et al. PubMed
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CD24 and APC Genetic Polymorphisms in Pancreatic Cancers as Potential Biomarkers for Clinical Outcome. PloS one. 2015. Shamai Sivan, et al. PubMed
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Pharmacogenomic modeling of circulating tumor and invasive cells for prediction of chemotherapy response and resistance in pancreatic cancer. Clinical cancer research : an official journal of the American Association for Cancer Research. 2014. Yu Kenneth H, et al. PubMed
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PharmGKB summary: gemcitabine pathway. Pharmacogenetics and genomics. 2014. Alvarellos Maria L, et al. PubMed
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Role of solute carrier transporters in pancreatic cancer: a review. Pharmacogenomics. 2014. Lemstrová Radmila, et al. PubMed
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Epigenetic perspectives on cancer chemotherapy response. Pharmacogenomics. 2014. Liu Mou-Ze, et al. PubMed
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Genetic polymorphisms of SLC28A3, SLC29A1 and RRM1 predict clinical outcome in patients with metastatic breast cancer receiving gemcitabine plus paclitaxel chemotherapy. European journal of cancer (Oxford, England : 1990). 2014. Lee Soo-Youn, et al. PubMed
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Genome-wide association and pharmacological profiling of 29 anticancer agents using lymphoblastoid cell lines. Pharmacogenomics. 2014. Brown Chad C, et al. PubMed
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SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours. British journal of cancer. 2014. Khatri A, et al. PubMed
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Prognostic Value of Human Equilibrative NucleosideTransporter1 in Pancreatic Cancer Receiving Gemcitabin-Based Chemotherapy: A Meta-Analysis. PloS one. 2014. Liu Zhu-Qing, et al. PubMed
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Genetic factors associated with gemcitabine pharmacokinetics, disposition, and toxicity. Pharmacogenetics and genomics. 2013. Knights Jonathan, 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
Rapid deaminator status is associated with poor clinical outcome in pancreatic cancer patients treated with a gemcitabine-based regimen. Pharmacogenomics. 2013. Serdjebi Cindy, et al. PubMed
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Implications of Genome-Wide Association Studies in Cancer Therapeutics. British journal of clinical pharmacology. 2013. Patel Jai N, et al. PubMed
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CDA gene polymorphisms and enzyme activity: genotype-phenotype relationship in an Italian-Caucasian population. Pharmacogenomics. 2013. Carpi Francesco M, et al. PubMed
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DNA repair and cytotoxic drugs: the potential role of RAD51 in clinical outcome of non-small-cell lung cancer patients. Pharmacogenomics. 2013. Nogueira Augusto, et al. PubMed
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Pharmacogenomics of gemcitabine metabolism: functional analysis of genetic variants in cytidine deaminase and deoxycytidine kinase. Drug metabolism and disposition: the biological fate of chemicals. 2013. Baker Jessica A Roseberry, et al. PubMed
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Excision repair cross-complementing gene-1, ribonucleotide reductase subunit M1, ribonucleotide reductase subunit M2, and human equilibrative nucleoside transporter-1 expression and prognostic value in biliary tract malignancy. Cancer. 2013. Fisher Sarah B, et al. PubMed
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Predictive and prognostic roles of ribonucleotide reductase M1 in resectable pancreatic adenocarcinoma. Cancer. 2013. Xie Hao, et al. PubMed
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Contribution of FKBP5 Genetic Variation to Gemcitabine Treatment and Survival in Pancreatic Adenocarcinoma. PloS one. 2013. Ellsworth Katarzyna A, et al. PubMed
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Akt/mTOR signaling pathway is crucial for gemcitabine resistance induced by Annexin II in pancreatic cancer cells. The Journal of surgical research. 2012. Kagawa Shingo, et al. PubMed
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Safety and effectiveness of gemcitabine in 260 patients with biliary tract cancer in a Japanese clinical practice based on post-marketing surveillance in Japan. Japanese journal of clinical oncology. 2012. Okubo Sumiko, et al. PubMed
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Harnessing gemcitabine metabolism: a step towards personalized medicine for pancreatic cancer. Therapeutic advances in medical oncology. 2012. Saif Muhammad Wasif, et al. PubMed
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Association of CASP7 polymorphisms and survival of patients with non-small cell lung cancer with platinum-based chemotherapy treatment. Chest. 2012. Qian Ji, et al. PubMed
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Levels of gemcitabine transport and metabolism proteins predict survival times of patients treated with gemcitabine for pancreatic adenocarcinoma. Gastroenterology. 2012. Maréchal Raphaël, et al. PubMed
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Aldehyde dehydrogenase 1A1 confers intrinsic and acquired resistance to gemcitabine in human pancreatic adenocarcinoma MIA PaCa-2 cells. International journal of oncology. 2012. Duong Hong-Quan, et al. PubMed
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Silencing of ribonucleotide reductase subunit M1 potentiates the antitumor activity of gemcitabine in resistant cancer cells. Cancer biology & therapy. 2012. Wonganan Piyanuch, et al. PubMed
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High incidence of severe neutropenia after gemcitabine-based chemotherapy in Chinese cancer patients with CDA 79A>C mutation. Clinica chimica acta; international journal of clinical chemistry. 2012. Xu Jialin, et al. PubMed
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Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine. Pharmacogenomics. 2012. Woo Hye In, et al. PubMed
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Pathway-based pharmacogenomics of gemcitabine pharmacokinetics in patients with solid tumors. Pharmacogenomics. 2012. Mitra Amit K, et al. PubMed
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Associations Between ABCC2 Polymorphisms and Cisplatin Disposition and Efficacy. Clinical pharmacology and therapeutics. 2012. Sprowl J A, et al. PubMed
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First-SIGNAL: first-line single-agent iressa versus gemcitabine and cisplatin trial in never-smokers with adenocarcinoma of the lung. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2012. Han Ji-Youn, et al. PubMed
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Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. The lancet oncology. 2012. Rosell Rafael, et al. PubMed
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Gene polymorphisms, pharmacokinetics, and hematological toxicity in advanced non-small-cell lung cancer patients receiving cisplatin/gemcitabine. Cancer chemotherapy and pharmacology. 2012. Joerger M, et al. PubMed
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A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy. Pharmacogenetics and genomics. 2012. Kiyotani Kazuma, et al. PubMed
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The influence of gemcitabine pathway polymorphisms on treatment outcome in patients with malignant mesothelioma. Pharmacogenetics and genomics. 2012. Er¿ulj Nina, et al. PubMed
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Genomic approach towards personalized anticancer drug therapy. Pharmacogenomics. 2012. Midorikawa Yutaka, et al. PubMed
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Arylamine N-acetyltransferase 1: a novel drug target in cancer development. Pharmacological reviews. 2012. Butcher Neville J, et al. PubMed
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ERCC1 as a biomarker for bladder cancer patients likely to benefit from adjuvant chemotherapy. BMC cancer. 2012. Sun Jong-Mu, et al. PubMed
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Involvement of phosphatidylinositol 3-kinase/Akt pathway in gemcitabine-induced apoptosis-like cell death in insulinoma cell line INS-1. Biological & pharmaceutical bulletin. 2012. Motoshige Hironori, et al. PubMed
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A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. Innocenti Federico, et al. PubMed
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Localization of association signal from risk and protective variants in sequencing studies. Frontiers in genetics. 2012. Brisbin Abra, et al. PubMed
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Ribonucleotide reductase M2 does not predict survival in patients with resectable pancreatic adenocarcinoma. International journal of clinical and experimental pathology. 2012. Xie Hao, et al. PubMed
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Association between DNA-repair polymorphisms and survival in pancreatic cancer patients treated with combination chemotherapy. Pharmacogenomics. 2011. Giovannetti Elisa, et al. PubMed
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FKBP5 as a Selection Biomarker for Gemcitabine and Akt Inhibitors in Treatment of Pancreatic Cancer. PloS one. 2012. Hou Junmei, et al. PubMed
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Pharmacogenomic characterization of US FDA-approved cytotoxic drugs. Pharmacogenomics. 2011. Peters Eric J, et al. PubMed
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Differential effect of polymorphisms of CMPK1 and RRM1 on survival in advanced non-small cell lung cancer patients treated with gemcitabine or taxane/cisplatinum. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer. 2011. Ryu Jeong-Seon, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. The lancet oncology. 2011. Zhou Caicun, 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
Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer. Pancreas. 2011. Zeng Hongmei, et al. PubMed
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Genetic variations in multiple drug action pathways and survival in advanced stage non-small cell lung cancer treated with chemotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. Li Yafei, et al. PubMed
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Influence of polymorphisms in MTHFR 677 C¿T, TYMS 3R¿2R and MTR 2756 A¿G on NSCLC risk and response to platinum-based chemotherapy in advanced NSCLC. Pharmacogenomics. 2011. Cui Lian-Hua, et al. PubMed
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Cytidine deaminase single-nucleotide polymorphism is predictive of toxicity from gemcitabine in patients with pancreatic cancer: RTOG 9704. The pharmacogenomics journal. 2011. Farrell J J, et al. PubMed
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Variability in transport and biotransformation of cytarabine is associated with its toxicity in peripheral blood mononuclear cells. Pharmacogenomics. 2011. Parmar Sumit, et al. PubMed
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Gemcitabine and platinum pathway pharmacogenetics in Asian breast cancer patients. Cancer genomics & proteomics. 2011. Wong Andrea Li-Ann, et al. PubMed
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Pharmocoepigenetics: a new approach to predicting individual drug responses and targeting new drugs. Pharmacological reports : PR. 2011. Baer-Dubowska Wanda, et al. PubMed
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Gemcitabine metabolic and transporter gene polymorphisms are associated with drug toxicity and efficacy in patients with locally advanced pancreatic cancer. Cancer. 2010. Tanaka Motofumi, et al. PubMed
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Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics. 2010. Beaulieu Mathieu, et al. PubMed
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CD38 expression, function, and gene resequencing in a human lymphoblastoid cell line-based model system. Leukemia & lymphoma. 2010. Hartman William R, et al. PubMed
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Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients. Lung cancer (Amsterdam, Netherlands). 2010. Carcereny Enric, et al. PubMed
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Drug transporter pharmacogenetics in nucleoside-based therapies. Pharmacogenomics. 2010. Errasti-Murugarren Ekaitz, 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
Expression of gemcitabine- and cisplatin-related genes in non-small-cell lung cancer. The pharmacogenomics journal. 2010. Toffalorio F, 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
Identifying molecular markers for chemosensitivity to gemcitabine in pancreatic cancer: increased expression of interferon-stimulated gene 15 kd is associated with intrinsic chemoresistance. Pancreas. 2010. Ina Shinomi, et al. PubMed
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Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach. BMC genomics. 2010. Kalari Krishna R, et al. PubMed
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RRM1 single nucleotide polymorphism -37C-->A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy. Journal of hematology & oncology. 2010. Dong Song, 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
The increasing role of pharmacogenetics in the treatment of gastrointestinal cancers. Gastrointestinal cancer research : GCR. 2009. Yalçin Suayib. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Generating genome-scale candidate gene lists for pharmacogenomics. Clinical pharmacology and therapeutics. 2009. Hansen N T, 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
Inhibition of Hedgehog signaling enhances delivery of chemotherapy in a mouse model of pancreatic cancer. Science (New York, N.Y.). 2009. Olive Kenneth P, 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
A new statistical screening approach for finding pharmacokinetics-related genes in genome-wide studies. The pharmacogenomics journal. 2009. Sato Y, et al. PubMed
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Distribution of gemcitabine pathway genotypes in ethnic Asians and their association with outcome in non-small cell lung cancer patients. Lung cancer (Amsterdam, Netherlands). 2009. Soo Ross A, et al. PubMed
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Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, et al. PubMed
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Clinical pharmacology and pharmacogenetics of gemcitabine. Drug metabolism reviews. 2009. Wong Andrea, et al. PubMed
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Gemcitabine and arabinosylcytosin pharmacogenomics: genome-wide association and drug response biomarkers. PloS one. 2009. Li Liang, et al. PubMed
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Gemcitabine and cytosine arabinoside cytotoxicity: association with lymphoblastoid cell expression. Cancer research. 2008. Li Liang, et al. PubMed
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Gemcitabine pharmacogenomics: deoxycytidine kinase and cytidylate kinase gene resequencing and functional genomics. Drug metabolism and disposition: the biological fate of chemicals. 2008. Kocabas Neslihan Aygun, et al. PubMed
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Correlation between cytidine deaminase genotype and gemcitabine deamination in blood samples. Nucleosides, nucleotides & nucleic acids. 2008. Giovannetti E, 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
Efficacy of gemcitabine in patients with non-small cell lung cancer according to promoter polymorphisms of the ribonucleotide reductase M1 gene. Clinical cancer research : an official journal of the American Association for Cancer Research. 2008. Kim Soo-Ok, 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
Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine. Human mutation. 2008. Jarjanazi Hamdi, et al. PubMed
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Correlation of CDA, ERCC1, and XPD polymorphisms with response and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research. 2008. Tibaldi Carmelo, et al. PubMed
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Toxic death case in a patient undergoing gemcitabine-based chemotherapy in relation with cytidine deaminase downregulation. Pharmacogenetics and genomics. 2007. Mercier Cédric, 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 of gemcitabine: can genetic studies lead to tailor-made therapy?. British journal of cancer. 2007. Ueno H, et al. PubMed
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An association between RRM1 haplotype and gemcitabine-induced neutropenia in breast cancer patients. The oncologist. 2007. Rha Sun Young, et al. PubMed
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Pharmacokinetics of gemcitabine in Japanese cancer patients: the impact of a cytidine deaminase polymorphism. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Sugiyama Emiko, 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
Cellular pharmacology of gemcitabine. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2006. Mini E, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Gemcitabine pharmacogenomics: cytidine deaminase and deoxycytidylate deaminase gene resequencing and functional genomics. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Gilbert Judith A, 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
Micro-array analysis of resistance for gemcitabine results in increased expression of ribonucleotide reductase subunits. Nucleosides, nucleotides & nucleic acids. 2006. Smid K, 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
cN-II expression predicts survival in patients receiving gemcitabine for advanced non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands). 2005. Sève Pascal, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Severe drug toxicity associated with a single-nucleotide polymorphism of the cytidine deaminase gene in a Japanese cancer patient treated with gemcitabine plus cisplatin. Clinical cancer research : an official journal of the American Association for Cancer Research. 2005. Yonemori Kan, 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
The absence of human equilibrative nucleoside transporter 1 is associated with reduced survival in patients with gemcitabine-treated pancreas adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research. 2004. Spratlin Jennifer, 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
Determinants of sensitivity and resistance to gemcitabine: the roles of human equilibrative nucleoside transporter 1 and deoxycytidine kinase in non-small cell lung cancer. Cancer science. 2004. Achiwa Hiroyuki, 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
An increase in the expression of ribonucleotide reductase large subunit 1 is associated with gemcitabine resistance in non-small cell lung cancer cell lines. Cancer research. 2004. Davidson Jennifer D, 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
Gene expression as a predictive marker of outcome in stage IIB-IIIA-IIIB non-small cell lung cancer after induction gemcitabine-based chemotherapy followed by resectional surgery. Clinical cancer research : an official journal of the American Association for Cancer Research. 2004. Rosell Rafael, 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
Synergistic antitumor activity by combined treatment with gemcitabine and antisense oligodeoxynucleotide targeting clusterin gene in an intravesical administration model against human bladder cancer kotcc-1 cells. The Journal of urology. 2004. Miyake Hideaki, 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
Ribonucleotide reductase messenger RNA expression and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research. 2004. Rosell Rafael, 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
Physical and functional interactions between USF and Sp1 proteins regulate human deoxycytidine kinase promoter activity. The Journal of biological chemistry. 2003. Ge Yubin, 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
Identification and analysis of single-nucleotide polymorphisms in the gemcitabine pharmacologic pathway. The pharmacogenomics journal. 2004. Fukunaga A K, 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
First-line gemcitabine with cisplatin or epirubicin in advanced non-small-cell lung cancer: a phase III trial. British journal of cancer. 2003. Wachters F M, 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
Phase II study of liposomal doxorubicin and gemcitabine in the salvage treatment of ovarian cancer. British journal of cancer. 2003. D'Agostino G, 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
Histone deacetylase inhibitor LAQ824 down-regulates Her-2 and sensitizes human breast cancer cells to trastuzumab, taxotere, gemcitabine, and epothilone B. Molecular cancer therapeutics. 2003. Fuino Lianne, 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
Sensitization of human breast cancer cells to gemcitabine by the protein kinase C modulator bryostatin 1. Cancer chemotherapy and pharmacology. 2003. Ali Shadan, 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
Increased sensitivity to gemcitabine of P-glycoprotein and multidrug resistance-associated protein-overexpressing human cancer cell lines. British journal of cancer. 2003. Bergman A M, 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
Functional characterization in yeast of genetic variants in the human equilibrative nucleoside transporter, ENT1. Pharmacogenetics. 2003. Osato Douglas H, 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
Pretreatment deoxycytidine kinase levels predict in vivo gemcitabine sensitivity. Molecular cancer therapeutics. 2002. Kroep Judith R, 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
Determinants of resistance to 2',2'-difluorodeoxycytidine (gemcitabine). Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy. 2002. Bergman Andries M, 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
Gemcitabine transport in xenopus oocytes expressing recombinant plasma membrane mammalian nucleoside transporters. Journal of the National Cancer Institute. 1999. Mackey J R, et al. PubMed

LinkOuts

Web Resource:
Wikipedia
National Drug Code Directory:
0002-7501-01
DrugBank:
DB00441
PDB:
GEO
ChEBI:
175901
KEGG Compound:
C07650
KEGG Drug:
D02368
PubChem Compound:
60750
PubChem Substance:
46506425
9852
Drugs Product Database (DPD):
2230309
ChemSpider:
54753
HET:
GEO
Therapeutic Targets Database:
DAP001246
FDA Drug Label at DailyMed:
9dc35c59-f4f3-43b4-8251-0cf5c06cdc80

Clinical Trials

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