rs72552713
A SNP in the ABCG2 gene on chromosome 4. Its most notable genotype is A;A: Higher risk for gout
- Gene
- ABCG2
- Location
- Chr 488,131,805 (GRCh38)
- Highest magnitude
- 3.5Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadHigher risk for gout
- A;GBad2.8x higher risk for gout
- G;GGoodcommon in complete genomics
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 180 words
rs72552713, also known as Gln126Ter, is a SNP in the ABCG2 gene. gout association in a Japanese population, based on ; 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.
A;A
This genotype represents carrying two copies of the rs72552713(A) allele, which is associated with higher risk of gout.
A;G
The rs72552713(A) allele is associated with higher risk for gout.
Source and license
Adapted from rs72552713 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.