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