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.

  1. A;AMost notableBadHigher risk for goutImportant · 3.5
  2. A;GBad2.8x higher risk for goutWorth knowing · 2.8
  3. G;GGoodcommon in complete genomicsTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.