rs58542926, TM6SF2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE Metabolic syndrome (MetS) and genetic polymorphisms PNPLA3 rs738409, TM6SF2 rs58542926 and MBOAT7 rs641738 are known inductors of non-alcoholic fatty liver disease (NAFLD). 31851849 2019
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE The I148M variant in PNPLA3 and the E167K variant in TM6SF2 are both associated with increased liver fat content, but not features of the metabolic/insulin resistance syndrome. 27432073 2016
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE Such potential examples of genotypes that are associated with a dissociation between liver disease and metabolic syndrome are patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) genotypes. 26978356 2016