Tag

Liver Disease

13 genetic variants with this tag.

RSID	Gene	Description	Category
rs2294918	PNPLA3 PNPLA3 K434E (E434K)	Second PNPLA3 missense variant that reduces hepatic PNPLA3 mRNA and protein e...	Liver Fat	Liver Disease	Moderate
rs2296241	CYP24A1	Synonymous coding variant in CYP24A1 (vitamin D 24-hydroxylase) that tags fun...	Vitamin D Metabolism	Liver Disease	Moderate
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	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
rs72613567	HSD17B13 Splice Variant (;A)	Protective adenine insertion disrupting the HSD17B13 splice donor site, produ...	Liver Fat	Liver Disease	Established
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Liver Disease	Established
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) that marks the HLA-DP...	Interferon Signaling & Systemic Autoimmune	Liver Disease	Strong
rs2031920	CYP2E1 *5B (RsaI)	Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f...	Pharmacogenomics	Liver Disease	Moderate
rs7359397	SH2B1 SH2B1 C/T	Regulatory CpG-SNP downstream of SH2B1 that reduces gene expression via allel...	Appetite & Obesity	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