rs2273697
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 99804058 |
| Gene | ABCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2273697 |
| dbSNP (classic) | rs2273697 |
| ClinGen | rs2273697 |
| ebi | rs2273697 |
| HLI | rs2273697 |
| Exac | rs2273697 |
| Gnomad | rs2273697 |
| Varsome | rs2273697 |
| LitVar | rs2273697 |
| Map | rs2273697 |
| PheGenI | rs2273697 |
| Biobank | rs2273697 |
| 1000 genomes | rs2273697 |
| hgdp | rs2273697 |
| ensembl | rs2273697 |
| geneview | rs2273697 |
| scholar | rs2273697 |
| rs2273697 | |
| pharmgkb | rs2273697 |
| gwascentral | rs2273697 |
| openSNP | rs2273697 |
| 23andMe | rs2273697 |
| SNPshot | rs2273697 |
| SNPdbe | rs2273697 |
| MSV3d | rs2273697 |
| GWAS Ctlg | rs2273697 |
| GMAF | 0.1736 |
| Max Magnitude | 1 |
| ? | (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 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18176959] 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 18395921] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18817904] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
[PMID 19568750] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.
[PMID 22112610] 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 22318656] Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry.
[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 23896815] 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.
| ClinVar | |
|---|---|
| Risk | Rs2273697(A;A) |
| Alt | Rs2273697(A;A) |
| Reference | Rs2273697(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Dubin-Johnson syndrome |
| Variation | info |
| Gene | ABCC2 |
| CLNDBN | not specified Dubin-Johnson syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.101563815G>A |
| CLNSRC | |
| CLNACC | RCV000254241.1, RCV000333965.1, |
[PMID 31391850] Role of Four ABC Transporter Genes in Pharmacogenetic Susceptibility to Breast Cancer in Jordanian Patients.
