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rs72552713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.5 Higher risk for gout
(A;G) 2.8 2.8x higher risk for gout
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome4
Position88131805
GeneABCG2
is asnp
is mentioned by
dbSNPrs72552713
ebirs72552713
HLIrs72552713
Exacrs72552713
Varsomers72552713
Maprs72552713
PheGenIrs72552713
hapmaprs72552713
1000 genomesrs72552713
hgdprs72552713
ensemblrs72552713
gopubmedrs72552713
geneviewrs72552713
scholarrs72552713
googlers72552713
pharmgkbrs72552713
gwascentralrs72552713
openSNPrs72552713
23andMers72552713
23andMe allrs72552713
SNP Nexus

SNPshotrs72552713
SNPdbers72552713
MSV3drs72552713
GWAS Ctlgrs72552713
GMAF0.001377
Max Magnitude3.5

rs72552713, also known as Gln126Ter, is a SNP in the ABCG2 gene.

gout association, based on [PMID 25646370]; note that this publication refers to risk allele (T) based on the minus strand, whereas for dbSNP and SNPedia, rs72552713 is defined as on the plus strand, so therefore the risk allele is (A).

The case-control analysis of 1993 patients with gout and 1334 controls concluded that rs72552713(A) was significantly associated with gout (odds ratio 2.86, CI:2.1-3.8,p=4.4x10e-12). The risk is independent of the risk posed by another ABCG2 gene SNP, rs2231142, since these two SNPs are on different haplotypes. Both ABCG2 SNPs are, however, associated with the ROL gout subtype, defined as when urinary urate excretion (UUE) is over 25.0 mg/h/1.73 m2 (600 mg/day/1.73 m2) and urate clearance (urate clearance/creatinine clearance ratio, FEUA) is 5.5% or over.[PMID 25646370]


ClinVar
Risk rs72552713(A;A)
Alt rs72552713(A;A)
Reference rs72552713(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 0
HGVS NC_000004.11:g.89052957G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023335.3, RCV000023336.3,