Research
Tag

Kidney

14 genetic variants with this tag.

RSID Gene Description Category
rs1008899 NEDD4L Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination c... Blood Pressure & Hypertension Moderate
rs1165196 SLC17A1 SLC17A1 T269I (NPT1) Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G a... Uric Acid & Kidney Function Moderate
rs1063537 ADIPOQ 3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common... Fat Storage & Energy Moderate
rs1173771 NPR3 NPR3 promoter variant Regulatory variant near the NPR3 transcription start site that reduces natriu... Blood Pressure & Hypertension Strong
rs3865418 NEDD4L Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward th... Blood Pressure & Hypertension Moderate
rs1800764 ACE Promoter T>C Upstream promoter-region ACE variant on a separate LD block from the I/D poly... Fitness & Body Moderate
rs4961 ADD1 Gly460Trp Alpha-adducin missense variant that increases renal tubular sodium reabsorpti... Blood Pressure & Hypertension Strong
rs6852441 SLC2A9 Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the p... Uric Acid & Kidney Function Moderate
rs7571842 SLC4A5 Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 as... Blood Pressure & Hypertension Strong
rs7660895 SLC2A9 Intronic variant in the major renal urate transporter GLUT9; the G allele red... Uric Acid & Kidney Function Strong
rs8094327 NEDD4L Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodiu... Blood Pressure & Hypertension Moderate
rs72552272 SLC7A7 L334R Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys... Metabolic Enzymes & Rare Disorders Established
rs2758151 SGK1 Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ... Blood Sugar & Diabetes Moderate
rs316019 SLC22A2 Ala270Ser Reduces OCT2 organic cation transporter function in the kidney, lowering metf... Pharmacogenomics Moderate