Tag

Gout

13 genetic variants with this tag.

RSID	Gene	Description	Category
rs1165196	SLC17A1 SLC17A1 T269I (NPT1)	Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G a...	Uric Acid & Kidney Function	Gout	Moderate
rs11726117	ALPK1 ALPK1 variant	Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ...	Uric Acid & Kidney Function	Gout	Moderate
rs121907892	SLC22A12 W258X	Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c...	Uric Acid & Kidney Function	Gout	Strong
rs12510549	SLC2A9	Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is as...	Uric Acid & Kidney Function	Gout	Strong
rs16890979	SLC2A9	Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...	Uric Acid & Kidney Function	Gout	Moderate
rs2078267	SLC22A11	Intronic variant in the OAT4 renal urate transporter that modulates uric acid...	Uric Acid & Kidney Function	Gout	Strong
rs3825016	SLC22A12	Synonymous coding variant in the URAT1 renal urate transporter; the C allele ...	Uric Acid & Kidney Function	Gout	Moderate
rs4293393	UMOD	UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-se...	Uric Acid & Kidney Function	Gout	Established
rs475688	SLC22A12	Intronic regulatory variant in the URAT1 renal urate transporter gene; the T ...	Uric Acid & Kidney Function	Gout	Strong
rs505802	SLC22A12	Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;...	Uric Acid & Kidney Function	Gout	Established
rs6837293	PRKG2	Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...	Uric Acid & Kidney Function	Gout	Emerging
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Innate Immunity & Infection Defense	Gout	Moderate
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Gout	Established