Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Here, we accessed the seven polymorphisms of rs1260326, rs780094 in GCKR, rs2954021 near TRIB1, rs2228603 in NCAN, rs58542926 in TM6SF2, rs12137855 near LYPLAL1, and rs10883437 near CPN1 on NAFLD susceptibility in the Uygur population. 30646922

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent risk factors for non-alcoholic fatty liver disease (NAFLD). 26745555

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE We found that ALT (p = 3.2 × 10(-6), n = 94,414) and AST (p = 0007, n = 93,809) levels were significantly associated with rs58542926 in NAFLD. 27278285

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Because PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants are known to confer susceptibility to NAFLD, we assessed the influence of MBOAT7 rs641738 on hepatic steatosis, and serum levels of CK-18 fragment (a biomarker of hepatocellular injury and apoptosis for NAFLD) after adjusting the effects of PNPLA3, GCKR and TM6SF2 polymorphisms. 29314568

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The dual and opposite role of the TM6SF2-rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta-analysis. 26331730

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The rs58542926 polymorphism in TM6SF2 (transmembrane 6 superfamily member 2) is a genetic factor predisposing to nonalcoholic fatty liver disease. 31356578

2020

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE NAFLD was strongly associated with three genetic variants, TM6SF2 rs58542926, PNPLA3 rs738409 and GCKR rs1260326, and more slightly with ELOVL2 rs2236212, in obese children and adolescents. 31255630

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded according to the nonalcoholic fatty liver disease activity score, and necroinflammation and fibrosis graded and staged according to Ishak in Italian, and to Metavir in Swiss/German patients. 25820484

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE As variants in PNPLA3 (I148M) and TM6SF2 (E167K) are associated with nonalcoholic fatty liver disease, we assessed these variants in type 2 diabetes (T2D) patients randomized to receive BIL (n=1822) or GL (n=1270) in three phase 3 trials. 29160303

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE However, it was found that a one-portion increase in fish intake increased the risk of NAFLD in carriers of the risk allele of TM6SF2 rs58542926 polymorphism compared to non-carriers, after adjusting for age, gender, energy intake, pack-years, PAL, TM6SF2 genotype and fish consumption (OR<sub>dominant</sub> = 1.503, 95% CI 1.094-2.064). 29574608

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE More recently, the transmembrane 6 superfamily member 2 E167K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes. 26494964

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD. 25763607

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE We conclude that the E167K variant in TM6SF2 is associated with a distinct subtype of NAFLD, characterized by preserved insulin sensitivity with regard to lipolysis, hepatic glucose production and lack of hypertriglyceridemia despite a clearly increased LFAT content. 25457209

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without. 25302781

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Importantly, our data indicates that the genetic variant TM6SF2 E167K, previously associated with increased risk for NAFLD, induces increased hepatocyte fat content by reducing APOB particle secretion. 31406127

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE TM6SF2 rs58542926 is clearly associated with NAFLD, but it is not clearly associated with HCC. 26493626

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The TM6SF2 rs58542926 T allele promotes the abnormal regulation of lipid profiles and liver injury in NA</span>FLD patients, NAFLD&CRA patients, and overall subjects. 30727943

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE This study confirmed the genetic association of missense SNP of TM6SF2, rs58542926, with plasma lipid levels in multiple East Asian ethnic groups and with NAFLD in Japanese individuals. 26758378

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE An I148 M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3) and an E167K variant in transmembrane 6 superfamily 2 (TM6SF2) are major genetic risk factors for the development and progression of NAFLD. 30550414

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The TM6SF2 E167K variant was associated with NAFLD in northeast China, and there was an interaction between the PNPLA3 I148M and TMS6F2 E167K variants in NAFLD. 31054977

2020

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE There was no significant difference in the proportions of patients with rs738409 C>G in PNPLA3, but a significantly greater proportion of patients with lean NAFLD carried rs58542926 C>T in TM6SF2 (4%) than obese or overweight individuals with NAFLD (0.3%; P = .001). 28554682

2017

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Genomic studies confirmed that PNPLA3 I148M and TM6SF2 E167K polymorphisms affected NAFLD susceptibility in the general population. 26379412

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The PNPLA3 mutation as well as the novel NAFLD-predisposing genetic variant (TM6SF2 p.E167K) were genotyped with allele-specific probes. 26264356

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. 24978903

2014