Research
Tag

Kidney Function

18 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 Moderate
rs10177833 SLC4A5 Intronic variant in the sodium bicarbonate cotransporter gene strongly associ... Blood Pressure & Hypertension Strong
rs11726117 ALPK1 ALPK1 variant Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ... Uric Acid & Kidney Function Moderate
rs121907892 SLC22A12 W258X Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c... Uric Acid & Kidney Function Strong
rs12510549 SLC2A9 Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is as... Uric Acid & Kidney Function Strong
rs12606138 NEDD4L Intronic variant in NEDD4L associated with reading ability and dyslexia susce... Blood Pressure & Hypertension Moderate
rs12917707 UMOD Uromodulin promoter variant — strongest GWAS signal for chronic kidney diseas... Uric Acid & Kidney Function Established
rs16890979 SLC2A9 Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ... Uric Acid & Kidney Function Moderate
rs2004776 AGT Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t... Blood Pressure & Hypertension Strong
rs3825016 SLC22A12 Synonymous coding variant in the URAT1 renal urate transporter; the C allele ... Uric Acid & Kidney Function Moderate
rs475688 SLC22A12 Intronic regulatory variant in the URAT1 renal urate transporter gene; the T ... Uric Acid & Kidney Function Strong
rs35929607 STK39 Intronic variant in the SPAK kinase gene that has been studied for associatio... Blood Pressure & Hypertension Emerging
rs3754777 STK39 Intronic STK39 variant that increases SPAK kinase expression, raising blood p... Blood Pressure & Hypertension Moderate
rs3755351 ADD2 Intronic variant in beta-adducin associated with hypertension susceptibility ... Blood Pressure & Hypertension Emerging
rs73885316 APOL1 p.N264K Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic... Uric Acid & Kidney Function Strong
rs77924615 UMOD PDILT-UMOD regulatory variant Intronic regulatory variant physically located in PDILT that controls uromodu... Uric Acid & Kidney Function Strong
rs5186 AGTR1 A1166C 3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg... Blood Pressure & Hypertension Moderate
rs7305099 WNK1 WNK1 intronic variant Intronic WNK1 variant where the G allele is associated with increased essenti... Blood Pressure & Hypertension Moderate