Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58542926
rs58542926
TM6SF2
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.050 GeneticVariation BEFREE Decreased liver production/secretion of VLDL, decreased cholesterol and TGs in VLDL/LDL particles in serum, and increased tyrosine levels identify possible mechanisms by which rs58542926-T exerts its effects on increasing risk of fatty liver disease, decreasing cardiovascular disease, and increasing diabetes risk, respectively. 28539357

2017
dbSNP: rs58542926
rs58542926
TM6SF2
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.050 GeneticVariation BEFREE Interestingly, patients harbouring the TM6SF2 rs58542926 T allele that predispose to NAFLD/NASH had higher LBP level. 28464257

2017
dbSNP: rs58542926
rs58542926
TM6SF2
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.050 GeneticVariation BEFREE Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study. 26457389

2016
dbSNP: rs58542926
rs58542926
TM6SF2
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.050 GeneticVariation BEFREE Carriers of the TM6SF2 E167K variant are more susceptible to progressive NASH, but are protected against cardiovascular disease. 25251399

2015
dbSNP: rs58542926
rs58542926
TM6SF2
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.050 GeneticVariation BEFREE Recently, genome-wide association studies led to the identification of the major inherited determinants of hepatic fat accumulation: patatin-like phospholipase domain-containing 3 (PNPLA3) I148M gene and transmembrane 6 superfamily member 2 (TM6SF2) E167K gene variants, involved in lipid droplets remodelling and very low-density lipoproteins secretion, are the major determinants of interindividual differences in liver steatosis, and susceptibility to progressive NASH. 26273621

2015