Tag

Kidney Function

38 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	Kidney Function	Emerging
rs10177833	SLC4A5	Intronic variant in the sodium bicarbonate cotransporter gene strongly associ...	Blood Pressure & Hypertension	Kidney Function	Strong
rs1165196	SLC17A1 SLC17A1 T269I (NPT1)	Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G a...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs1165205	SLC17A3 SLC17A3 variant (NPT4)	Intronic variant in SLC17A3, encoding the renal apical urate efflux transport...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs11726117	ALPK1 ALPK1 variant	Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs10882398	PLCE1	Intronic PLCE1 variant where the A allele raises systolic blood pressure and ...	Blood Pressure & Hypertension	Kidney Function	Strong
rs1183201	SLC17A1	Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter...	Uric Acid & Kidney Function	Kidney Function	Strong
rs11959928	DAB2	Intronic regulatory variant that increases DAB2 expression in kidney tubules,...	Cholesterol & Lipoproteins	Kidney Function	Strong
rs121907892	SLC22A12 W258X	Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c...	Uric Acid & Kidney Function	Kidney Function	Strong
rs12606138	NEDD4L	Intronic variant in NEDD4L associated with reading ability and dyslexia susce...	Blood Pressure & Hypertension	Kidney Function	Moderate
rs12510549	SLC2A9	Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is as...	Uric Acid & Kidney Function	Kidney Function	Strong
rs12917707	UMOD	Uromodulin promoter variant — strongest GWAS signal for chronic kidney diseas...	Uric Acid & Kidney Function	Kidney Function	Established
rs147647315	SLC22A12 URAT1 R90H	Missense variant in URAT1 reducing urate reabsorption in the kidney, causing ...	Uric Acid & Kidney Function	Kidney Function	Strong
rs2004776	AGT	Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t...	Blood Pressure & Hypertension	Kidney Function	Strong
rs16890979	SLC2A9	Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs2018643	SLC2A9 SLC2A9 rs2018643	Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4;...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs35929607	STK39	Intronic variant in the SPAK kinase gene that has been studied for associatio...	Blood Pressure & Hypertension	Kidney Function	Emerging
rs3733585	SLC2A9	Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate tran...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs3733590	SLC2A9	Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs3754777	STK39	Intronic STK39 variant that increases SPAK kinase expression, enhancing phosp...	Blood Pressure & Hypertension	Kidney Function	Moderate
rs3755351	ADD2	Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking a...	Blood Pressure & Hypertension	Kidney Function	Emerging
rs3825016	SLC22A12	Synonymous coding variant in the URAT1 renal urate transporter; the C allele ...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs3910053	NR3C2	Intronic NR3C2 variant associated with salt sensitivity of blood pressure and...	Blood Pressure & Hypertension	Kidney Function	Emerging
rs6997709	KCNK9	Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated wit...	Arrhythmia & Heart Rhythm	Kidney Function	Moderate
rs4473653	SLC2A9	Intronic SLC2A9 variant in a third independent haplotype block within the GLU...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs4519796	SLC2A9 SLC2A9 rs4519796	Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; ...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs4580649	SLC2A9 SLC2A9 rs4580649	Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A a...	Uric Acid & Kidney Function	Kidney Function	Moderate
rs475688	SLC22A12	Intronic regulatory variant in the URAT1 renal urate transporter gene; the T ...	Uric Acid & Kidney Function	Kidney Function	Strong
rs6849729	SLC2A9	Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-cle...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs549476	NEDD4L	Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and s...	Blood Pressure & Hypertension	Kidney Function	Moderate
rs7305099	WNK1 WNK1 intronic variant	Intronic WNK1 variant where the G allele is associated with increased essenti...	Blood Pressure & Hypertension	Kidney Function	Moderate
rs73885316	APOL1 p.N264K	Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic...	Uric Acid & Kidney Function	Kidney Function	Strong
rs7435196	SLC2A9	Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs7660895	SLC2A9	Intronic variant in the major renal urate transporter GLUT9; the G allele red...	Uric Acid & Kidney Function	Kidney Function	Strong
rs7679916	SLC2A9	Regulatory upstream variant in the SLC2A9 promoter region; the T allele is as...	Uric Acid & Kidney Function	Kidney Function	Emerging
rs77924615	UMOD PDILT-UMOD regulatory variant	Intronic regulatory variant physically located in PDILT that controls uromodu...	Uric Acid & Kidney Function	Kidney Function	Strong
rs6814664	SLC2A9 SLC2A9 Uric Acid Transport Variant	Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorpt...	Blood Sugar & Diabetes	Kidney Function	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	Kidney Function	Strong