Research
Tag

Liver

11 genetic variants with this tag.

RSID Gene Description Category
rs1044471 ADIPOR2 ADIPOR2 3'UTR variant A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; th... Fat Storage & Energy Moderate
rs201038679 ATP7B P992L Pathogenic missense variant in the copper transporter ATP7B; heterozygous car... Iron & Mineral Transport Established
rs563694 ABCB11 G6PC2/ABCB11 fasting glucose locus Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula... Liver Fat Strong
rs1801175 G6PC1 Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus... Metabolic Enzymes & Rare Disorders Established
rs28942074 ATP7B R778L Pathogenic missense variant in the hepatic copper transporter ATP7B that abol... Vitamins & Nutrient Absorption Established
rs55714927 ASGR1 ASGR1 K89K Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen... Atherogenic Lipoproteins Strong
rs367543005 ASL p.Gln354Ter (Q354X) Nonsense mutation in argininosuccinate lyase introducing a premature stop cod... Metabolic Enzymes & Rare Disorders Established
rs6902123 PPARD Intronic PPARD variant that independently impairs hepatic fat mobilization du... Fitness & Body Moderate
rs6017340 HNF4A HNF4A Regulatory Variant Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation... Blood Sugar & Diabetes Emerging
rs4149056 SLCO1B1 *5 Statin transport - affects muscle side effect risk with statins Pharmacogenomics Established
rs8192780 CYP2E1 Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc... Pharmacogenomics Emerging