Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.020 GeneticVariation BEFREE This study provides evidence of a significant association between the PEMT rs7946 A-allele and a risk of NAFLD, with the effect being more prominent in East-Asians, but not in non-Asians. 26636496 2016
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.020 GeneticVariation BEFREE For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD. 16051693 2005