rs58542926
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 2 | Complex; slightly lower risk of heart attacks, yet slightly higher risk for diabetes and NAFLD |
| Make rs58542926(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 19268740 |
| Gene | TM6SF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58542926 |
| dbSNP (classic) | rs58542926 |
| ClinGen | rs58542926 |
| ebi | rs58542926 |
| HLI | rs58542926 |
| Exac | rs58542926 |
| Gnomad | rs58542926 |
| Varsome | rs58542926 |
| LitVar | rs58542926 |
| Map | rs58542926 |
| PheGenI | rs58542926 |
| Biobank | rs58542926 |
| 1000 genomes | rs58542926 |
| hgdp | rs58542926 |
| ensembl | rs58542926 |
| geneview | rs58542926 |
| scholar | rs58542926 |
| rs58542926 | |
| pharmgkb | rs58542926 |
| gwascentral | rs58542926 |
| openSNP | rs58542926 |
| 23andMe | rs58542926 |
| SNPshot | rs58542926 |
| SNPdbe | rs58542926 |
| MSV3d | rs58542926 |
| GWAS Ctlg | rs58542926 |
| Max Magnitude | 2 |
Known more commonly as the TM6SF2 E167K variant, but also as c.499C>T or p.Glu167Lys, rs58542926 is a highly studied variant in the TM6SF2 gene located on chromosome 19.
Summarizing many studies conducted over the last 10+ years: TM6SF2 E167K variant carriers, i.e. rs58542926(C) carriers, have lower total cholesterol levels, lower prevalence of carotid atherosclerotic plaques and a (slightly; ~0.90x) lower incidence of cardiovascular events, however, they also have a (slightly) increased risk of developing non-alcoholic fatty liver disease and diabetes. Several reviews of TM6SF2 biology can be readily found, including the 2018 article, [PMID 29232562
]
[PMID 26331730] The dual and opposite role of the TM6SF2-rs58542926 Variant in Protecting against Cardiovascular Disease and Conferring Risk for Non-alcoholic fatty liver: A meta-analysis
[PMID 26457389] Role of the TM6SF2 rs58542926 in the pathogenesis of non-alcoholic pediatric fatty liver disease (NAFLD): A multiethnic study
[PMID 26493626] PNPLA3 rs738409 and TM6SF2 rs58542926 variants increase the risk of hepatocellular carcinoma in alcoholic cirrhosis
[PMID 26847197] Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
[PMID 28539357] Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apolipoprotein B-100 particles in Finns.
[PMID 28989566] Regional differences in genetic susceptibility to non-alcoholic liver disease in two distinct Indian ethnicities.
[PMID 30271746] The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant.
[PMID 30289982] PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases.
[PMID 30487694] Promoting genetics in non-alcoholic fatty liver disease: Combined risk score through polymorphisms and clinical variables.
[PMID 30564000] Genetic and Epigenetic Culprits in the Pathogenesis of Nonalcoholic Fatty Liver Disease.
[PMID 30572387] [Effects of PNPLA3, TM6SF2 gene polymorphisms and its interactions with smoking and alcohol drinking on hepatitis B virus-associated hepatocellular carcinoma].
[PMID 30875804] TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
[PMID 31826071] Interleukin 28 Polymorphisms and Hepatocellular Carcinoma Development after Direct Acting Antiviral Therapy for Chronic Hepatitis C.
[PMID 32062042] Development and Validation of a Scoring System, Based on Genetic and Clinical Factors, to Determine Risk of Steatohepatitis in Asian Patients with Nonalcoholic Fatty Liver Disease.
[PMID 32349377] Possible Relevance of PNPLA3 and TLL1 Gene Polymorphisms to the Efficacy of PEG-IFN Therapy for HBV-Infected Patients.
[PMID 33476381] Study of CXCL9-11 gene polymorphisms in liver fibrosis among patients with chronic hepatitis C.
