rs72552713, ABCG2

N. diseases: 2
Disease: Hyperuricemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperuricemia
CUI: C0740394
Disease: Hyperuricemia
0.010 GeneticVariation BEFREE Adenosine 5'-triphosphate-binding cassette subfamily G member 2 (ABCG2) is a urate transporter, and common dysfunctional variants of ABCG2, non-functional Q126X (rs72552713) and semi-functional Q141K (rs2231142), are risk factors for hyperuricemia and gout. 29342419 2018