rs2231137
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | Slightly lower stroke risk |
| (A;G) | 1.5 | Slightly lower stroke risk |
| (G;G) | 1.5 | Most common genotype, with slightly higher stroke risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 88139962 |
| Gene | ABCG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2231137 |
| dbSNP (classic) | rs2231137 |
| ClinGen | rs2231137 |
| ebi | rs2231137 |
| HLI | rs2231137 |
| Exac | rs2231137 |
| Gnomad | rs2231137 |
| Varsome | rs2231137 |
| LitVar | rs2231137 |
| Map | rs2231137 |
| PheGenI | rs2231137 |
| Biobank | rs2231137 |
| 1000 genomes | rs2231137 |
| hgdp | rs2231137 |
| ensembl | rs2231137 |
| geneview | rs2231137 |
| scholar | rs2231137 |
| rs2231137 | |
| pharmgkb | rs2231137 |
| gwascentral | rs2231137 |
| openSNP | rs2231137 |
| 23andMe | rs2231137 |
| SNPshot | rs2231137 |
| SNPdbe | rs2231137 |
| MSV3d | rs2231137 |
| GWAS Ctlg | rs2231137 |
| GMAF | 0.1405 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2231137, also known as Val12Met, is a SNP in the ATP-binding cassette, sub-family G (WHITE), member 2 ABCG2 gene. The (G) allele encodes the Val.
In a study of incident ischemic stroke during 14 years of follow-up in a population-based study of older adults known as the Cardiovascular Health Study (CHS), rs2231137 was associated with stroke in both white (hazard ratio, 1.46, CI: 1.05 - 2.03) and black (hazard ratio, 3.59, CI, 1.11 - 11.6) participants. The risk of ischemic stroke was higher in Val allele homozygotes than in Met allele carriers. The adjusted hazard ratio for Val allele homozygotes, compared with Met allele carriers, was 1.50 (90% CI, 1.06 to 2.12) in whites and 3.62 (90% CI, 1.11 to 11.9) in black participants (Table 4). Because nearly 90% of whites and blacks are Val homozygotes, the Met allele could also be considered as a protective allele.[PMID 19023099
]
[PMID 21311724] Genetic polymorphisms of ATP-binding cassette (ABC) proteins, overall survival and drug toxicity in patients with Acute Myeloid Leukemia
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19584153] Clinical relevance of a pharmacogenetic approach using multiple candidate genes to predict response and resistance to imatinib therapy in chronic myeloid leukemia.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
| ClinVar | |
|---|---|
| Risk | Rs2231137(A;A) |
| Alt | Rs2231137(A;A) |
| Reference | Rs2231137(G;G) |
| Significance | Other |
| Disease | Uric acid concentration Blood group |
| Variation | info |
| Gene | ABCG2 |
| CLNDBN | Uric acid concentration, serum, quantitative trait locus 1 Blood group, Junior system |
| Reversed | 1 |
| HGVS | NC_000004.11:g.89061114C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023337.2, RCV000023338.2, |
[PMID 26109419] Polymorphisms in ATP-binding cassette transporter genes and interaction with diet and life style factors in relation to colorectal cancer in a Danish prospective case-cohort study
[PMID 30197413] Polymorphism of ABCG2 Gene in Hyperuricemia Patients of Han And Uygur Ethnicity with Phlegm/Non-Phlegm Block in Xinjiang, China.
[PMID 32000861] Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.
