Tag

Liver

17 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	Liver	Moderate
rs1125226	CYP7A1 CYP7A1 upstream promoter variant	Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile aci...	Cholesterol & Lipoproteins	Liver	Emerging
rs186021206	ASGR1	Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ...	Atherogenic Lipoproteins	Liver	Strong
rs2228603	NCAN T130M (Pro92Ser)	Missense variant in neurocan associated with hepatic steatosis, liver inflamm...	Liver Fat	Liver	Moderate
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Liver	Established
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Liver	Strong
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Liver	Established
rs1554483	CLOCK	Intronic CLOCK variant whose G allele, in a haplotype with rs4864548 A, confe...	Hormones & Sleep	Liver	Moderate
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	Liver	Strong
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Liver	Established
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Liver	Established
rs2070672	CYP2E1	CYP2E1 promoter variant affecting enzyme expression and susceptibility to ace...	Pharmacogenomics	Liver	Moderate
rs6902123	PPARD	Intronic PPARD variant that independently impairs hepatic fat mobilization du...	Fitness & Body	Liver	Moderate
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Liver	Established
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Liver	Emerging
rs4646976	CYP2E1	CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to...	Pharmacogenomics	Liver	Moderate
rs8192780	CYP2E1	Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc...	Pharmacogenomics	Liver	Emerging