Tag

Liver Disease

9 genetic variants with this tag.

RSID	Gene	Description	Category
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Liver Disease	Established
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Liver Disease	Established
rs3077	HLA-DPA1 HLA-DPA1 3′ UTR variant	Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression...	Interferon Signaling & Systemic Autoimmune	Liver Disease	Strong
rs6834314	HSD17B13	Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 s...	Liver Fat	Liver Disease	Moderate
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Metabolic Enzymes & Rare Disorders	Liver Disease	Established
rs7770370	HLA-DPB1	Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1); the G allele is stro...	Interferon Signaling & Systemic Autoimmune	Liver Disease	Strong
rs2031920	CYP2E1 *5B (RsaI)	Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f...	Pharmacogenomics	Liver Disease	Moderate
rs2919872	FABP1 FABP1 Promoter Variant	Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) th...	Triglycerides & Fatty Acids	Liver Disease	Moderate
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Liver Disease	Emerging