Tag

Gout

32 genetic variants with this tag.

RSID	Gene	Description	Category
rs1079128	SLC2A9	Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the ...	Uric Acid & Kidney Function	Gout	Emerging
rs1165196	SLC17A1 SLC17A1 T269I (NPT1)	Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G a...	Uric Acid & Kidney Function	Gout	Moderate
rs1165205	SLC17A3 SLC17A3 variant (NPT4)	Intronic variant in SLC17A3, encoding the renal apical urate efflux transport...	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
rs1183201	SLC17A1	Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter...	Uric Acid & Kidney Function	Gout	Strong
rs11942223	SLC2A9	Intronic SLC2A9 variant tagging an independent urate-transport signal; the pr...	Uric Acid & Kidney Function	Gout	Strong
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
rs147647315	SLC22A12 URAT1 R90H	Missense variant in URAT1 reducing urate reabsorption in the kidney, causing ...	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
rs2018643	SLC2A9 SLC2A9 rs2018643	Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4;...	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
rs3733585	SLC2A9	Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate tran...	Uric Acid & Kidney Function	Gout	Emerging
rs3733590	SLC2A9	Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele...	Uric Acid & Kidney Function	Gout	Emerging
rs3733591	SLC2A9 Arg265His	Missense variant in the major renal urate transporter; the Arg265 (C) allele ...	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
rs4473653	SLC2A9	Intronic SLC2A9 variant in a third independent haplotype block within the GLU...	Uric Acid & Kidney Function	Gout	Moderate
rs4519796	SLC2A9 SLC2A9 rs4519796	Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; ...	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
rs4580649	SLC2A9 SLC2A9 rs4580649	Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A a...	Uric Acid & Kidney Function	Gout	Moderate
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
rs6849729	SLC2A9	Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-cle...	Uric Acid & Kidney Function	Gout	Emerging
rs6852441	SLC2A9	Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the p...	Uric Acid & Kidney Function	Gout	Moderate
rs7435196	SLC2A9	Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene...	Uric Acid & Kidney Function	Gout	Emerging
rs7660895	SLC2A9	Intronic variant in the major renal urate transporter GLUT9; the G allele red...	Uric Acid & Kidney Function	Gout	Strong
rs7679916	SLC2A9	Regulatory upstream variant in the SLC2A9 promoter region; the T allele is as...	Uric Acid & Kidney Function	Gout	Emerging
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Gout	Established
rs6814664	SLC2A9 SLC2A9 Uric Acid Transport Variant	Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorpt...	Blood Sugar & Diabetes	Gout	Moderate
rs6815001	SLC2A9 SLC2A9 Renal Urate Clearance Variant	Intronic variant in the major renal urate transporter; the G allele tags a ha...	Blood Sugar & Diabetes	Gout	Strong