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rs2231137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2.1 ~1.5-3x increased risk for ischemic stroke
(G;G) 2.2 ~1.5-3x increased risk for ischemic stroke
ReferenceGRCh38 38.1/141
Chromosome4
Position88139962
GeneABCG2
is asnp
is mentioned by
dbSNPrs2231137
ebirs2231137
HLIrs2231137
Exacrs2231137
Varsomers2231137
Maprs2231137
PheGenIrs2231137
hapmaprs2231137
1000 genomesrs2231137
hgdprs2231137
ensemblrs2231137
gopubmedrs2231137
geneviewrs2231137
scholarrs2231137
googlers2231137
pharmgkbrs2231137
gwascentralrs2231137
openSNPrs2231137
23andMers2231137
23andMe allrs2231137
SNP Nexus

SNPshotrs2231137
SNPdbers2231137
MSV3drs2231137
GWAS Ctlgrs2231137
GMAF0.1405
Max Magnitude2.2
? (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). [PMID 19023099OA-icon.png]



[PMID 21311724OA-icon.png] Genetic polymorphisms of ATP-binding cassette (ABC) proteins, overall survival and drug toxicity in patients with Acute Myeloid Leukemia


[PMID 18547414OA-icon.png] 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 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.


GET Evidence
ABCG2-V12M
aa_change Val12Met
aa_change_short V12M
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0448968
summary



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
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