Tag

Liver Health

58 genetic variants with this tag.

RSID	Gene	Description	Category
rs1260326	GCKR P446L	Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...	Liver Fat	Liver Health	Strong
rs1229984	ADH1B His48Arg	ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r...	Mood & Behavior	Liver Health	Established
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Liver Health	Moderate
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Liver Health	Strong
rs199673455	GPD1	Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...	Liver Fat	Liver Health	Strong
rs121918384	APOB APOB Val1856fs	Frameshift deletion in APOB causing truncated apolipoprotein B-100, reducing ...	Cholesterol & Lipoproteins	Liver Health	Strong
rs2294918	PNPLA3 PNPLA3 K434E (E434K)	Second PNPLA3 missense variant that reduces hepatic PNPLA3 mRNA and protein e...	Liver Fat	Liver Health	Moderate
rs121918386	APOB APOB Arg2085Ter	Nonsense mutation in APOB creating a premature stop codon at position 2085, p...	Cholesterol & Lipoproteins	Liver Health	Strong
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Liver Health	Moderate
rs2642438	MTARC1 p.Ala165Thr (A165T)	Protective missense variant that reduces MTARC1 protein stability, cutting he...	Liver Fat	Liver Health	Established
rs121918387	APOB ApoB-67 frameshift	Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (Apo...	Cholesterol & Lipoproteins	Liver Health	Strong
rs121918388	APOB APOB Q2279X	Nonsense variant creating a premature stop codon at amino acid 2279 of apolip...	Cholesterol & Lipoproteins	Liver Health	Strong
rs4240624	PPP1R3B Near-gene variant	Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...	Liver Fat	Liver Health	Strong
rs1693482	ADH1C Arg272Gln (ADH1C1/2)	ADH1C variant defining the fast (ADH1C1, Arg272) vs slow (ADH1C2, Gln272) a...	Mood & Behavior	Liver Health	Strong
rs2075674	TFR2 TFR2 Ala617 variant	Synonymous coding variant in transferrin receptor 2 with potential splice-mod...	Iron & Mineral Transport	Liver Health	Emerging
rs4841132	PPP1R3B	Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...	Liver Fat	Liver Health	Strong
rs121918390	APOB APOB R2522X	Nonsense mutation truncating apolipoprotein B at residue 2522, causing famili...	Cholesterol & Lipoproteins	Liver Health	Strong
rs11868035	SREBF1	SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with ...	Fat Storage & Energy	Liver Health	Moderate
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Liver Fat	Liver Health	Strong
rs17147230	IL6	Near-gene upstream variant in IL6 associated with hepatocellular carcinoma ri...	Longevity & Aging	Liver Health	Moderate
rs641738	MBOAT7	Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...	Liver Fat	Liver Health	Strong
rs1457043	CYP7A1	Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero...	Cholesterol & Lipoproteins	Liver Health	Moderate
rs2066702	ADH1B Arg370Cys	ADH1B*3 variant encoding a superactive alcohol dehydrogenase found almost exc...	Mood & Behavior	Liver Health	Strong
rs6834314	HSD17B13	Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 s...	Liver Fat	Liver Health	Moderate
rs13412852	LPIN1	Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation an...	Fat Storage & Energy	Liver Health	Emerging
rs72613567	HSD17B13 Splice Variant (;A)	Protective adenine insertion disrupting the HSD17B13 splice donor site, produ...	Liver Fat	Liver Health	Established
rs738409	PNPLA3 I148M	Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...	Liver Fat	Liver Health	Established
rs2361502	MROH2A	Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated s...	Metabolic Enzymes & Rare Disorders	Liver Health	Moderate
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Liver Health	Strong
rs6742078	UGT1A10	Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associa...	Uric Acid & Kidney Function	Liver Health	Strong
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Liver Health	Strong
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Liver Health	Moderate
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Liver Health	Established
rs2236212	ELOVL2	Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing...	Triglycerides & Fatty Acids	Liver Health	Moderate
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Liver Health	Established
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Liver Health	Moderate
rs4434553	TFR2 TFR2 upstream variant	Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a...	Vitamins & Nutrient Absorption	Liver Health	Emerging
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Liver Health	Moderate
rs2070672	CYP2E1	CYP2E1 promoter variant affecting enzyme expression and susceptibility to ace...	Pharmacogenomics	Liver Health	Moderate
rs2070676	CYP2E1	Intronic CYP2E1 variant tagging the *1B haplotype; C allele marks reduced CYP...	Pharmacogenomics	Liver Health	Moderate
rs2919872	FABP1 FABP1 Promoter Variant	Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) th...	Triglycerides & Fatty Acids	Liver Health	Moderate
rs606231236	APOB	Pathogenic APOB splice acceptor variant causing familial hypobetalipoproteine...	Cholesterol & Lipoproteins	Liver Health	Strong
rs705379	PON1 PON1 promoter -108C>T	Promoter polymorphism that controls PON1 gene expression — the T allele (A on...	Vascular Inflammation & Remodeling	Liver Health	Strong
rs2480256	CYP2E1	3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk ...	Pharmacogenomics	Liver Health	Moderate
rs2515641	CYP2E1	Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, al...	Pharmacogenomics	Liver Health	Moderate
rs887829	UGT1A1 UGT1A1*80	Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...	Vascular Inflammation & Remodeling	Liver Health	Strong
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	Liver Health	Moderate
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Liver Health	Moderate
rs897453	PEMT	PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synt...	Vitamins & Nutrient Absorption	Liver Health	Moderate
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Liver Health	Moderate
rs953413	ELOVL2	Intronic enhancer variant in ELOVL2 that controls transcription factor bindin...	Triglycerides & Fatty Acids	Liver Health	Strong
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Liver Health	Established
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Liver Health	Emerging
rs6031552	HNF4A HNF4A Regulatory Variant	Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes...	Blood Sugar & Diabetes	Liver Health	Moderate
rs55897648	CYP2E1 *3 (Val389Ile)	CYP2E1*3 missense variant with no demonstrated change in enzyme activity for ...	Pharmacogenomics	Liver Health	Emerging
rs780095	GCKR GCKR Glucose-Lipid Regulation Variant	Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele ...	Blood Sugar & Diabetes	Liver Health	Moderate
rs780096	GCKR GCKR Metabolic Balance Variant	Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in...	Blood Sugar & Diabetes	Liver Health	Moderate
rs6413419	CYP2E1 *4 (V179I)	Missense variant (Val179Ile) defining the CYP2E1*4 allele; associated with al...	Pharmacogenomics	Liver Health	Emerging