Research
Tag

Kidney Disease

13 genetic variants with this tag.

RSID Gene Description Category
rs11264799 FCRL3 Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre... B-Cell Immunity & Antibody-Mediated Disease Emerging
rs28647808 ADAMTS13 Pro618Ala Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p... Von Willebrand & Anticoagulant Proteins Moderate
rs4293393 UMOD UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-se... Uric Acid & Kidney Function Established
rs505802 SLC22A12 Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;... Uric Acid & Kidney Function Established
rs7151526 SERPINA1 Regulatory variant downstream of SERPINA1 associated with increased susceptib... B-Cell Immunity & Antibody-Mediated Disease Moderate
rs73885316 APOL1 p.N264K Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic... Uric Acid & Kidney Function Strong
rs7951 C3 Synonymous C3 variant associated with reduced serum complement C3 levels and ... B-Cell Immunity & Antibody-Mediated Disease Moderate
rs77924615 UMOD PDILT-UMOD regulatory variant Intronic regulatory variant physically located in PDILT that controls uromodu... Uric Acid & Kidney Function Strong
rs62408925 NCK1 Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequil... Appetite & Obesity Moderate
rs193922485 HNF1B Rare HNF1B splice-region intronic variant of uncertain significance, found ne... Blood Sugar & Diabetes Emerging
rs60910145 APOL1 G1 I384M Second component of the APOL1 G1 kidney disease risk haplotype — a missense v... Cholesterol & Lipoproteins Established
rs71785313 APOL1 G2 (del388N389Y) Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ... Cholesterol & Lipoproteins Established
rs73885319 APOL1 G1 S342G APOL1 G1 kidney disease risk variant — missense change that evolved for trypa... Cholesterol & Lipoproteins Established