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rs2273697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Adverse reaction more likely to carbamazepine in epileptic patients
(A;G) 1 Adverse reaction more likely to carbamazepine in epileptic patients
(G;G) 0 normal/common
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position99804058
GeneABCC2
is asnp
is mentioned by
dbSNPrs2273697
ebirs2273697
HLIrs2273697
Exacrs2273697
Varsomers2273697
Maprs2273697
PheGenIrs2273697
hapmaprs2273697
1000 genomesrs2273697
hgdprs2273697
ensemblrs2273697
gopubmedrs2273697
geneviewrs2273697
scholarrs2273697
googlers2273697
pharmgkbrs2273697
gwascentralrs2273697
openSNPrs2273697
23andMers2273697
23andMe allrs2273697
SNP Nexus

SNPshotrs2273697
SNPdbers2273697
MSV3drs2273697
GWAS Ctlgrs2273697
GMAF0.1736
Max Magnitude1
? (A;A) (A;G) (G;G) 28
rs2273697, also known as c1249G>A or p.V471I, is a nonsynonymous polymorphism in the ABCC2 gene.

From an initial case-control study of 146 patients with epilepsy, followed by replication (p=0.001) in another 279 patients, the rs2273697(A) allele was associated with neurological adverse drug reactions from taking carbamazepine. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane.[PMID 20216337]





[PMID 22630058] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients


[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


[PMID 18176959OA-icon.png] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.


[PMID 18395921OA-icon.png] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18817904OA-icon.png] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.


[PMID 19568750OA-icon.png] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.


[PMID 22112610OA-icon.png] Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.


[PMID 22318656OA-icon.png] Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry.


GET Evidence
ABCC2-V417I
aa_change Val417Ile
aa_change_short V417I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.192322
summary Associated with increased activity of the intestinal efflux transporter ABCC2, evidenced by gene-dose related decrease of oral absorption and increased residual clearance of talinolol.



[PMID 23506516] A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy


[PMID 23069858] Impact of ABCC2 polymorphisms on high-dose methotrexate pharmacokinetics in patients with lymphoid malignancy.


[PMID 23896815OA-icon.png] Influence of ATP-binding cassette polymorphisms on neurological outcome after traumatic brain injury


[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population


[PMID 26807589] A Single-Nucleotide Polymorphism in ABCC4 Is Associated with Tenofovir-Related Beta2-Microglobulinuria in Thai Patients with HIV-1 Infection.