rs72552713

plus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

88131805

Gene

ABCG2

is a	snp
is	mentioned by
dbSNP	rs72552713
dbSNP (classic)	rs72552713
ClinGen	rs72552713
ebi	rs72552713
HLI	rs72552713
Exac	rs72552713
Gnomad	rs72552713
Varsome	rs72552713
LitVar	rs72552713
Map	rs72552713
PheGenI	rs72552713
Biobank	rs72552713
1000 genomes	rs72552713
hgdp	rs72552713
ensembl	rs72552713
geneview	rs72552713
scholar	rs72552713
google	rs72552713
pharmgkb	rs72552713
gwascentral	rs72552713
openSNP	rs72552713
23andMe	rs72552713
SNPshot	rs72552713
SNPdbe	rs72552713
MSV3d	rs72552713
GWAS Ctlg	rs72552713

GMAF

0.001377

Max Magnitude

3.5

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

gout association in a Japanese population, 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,