rs2294918, PNPLA3

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.010 GeneticVariation BEFREE Several recent studies showed that the genetic polymorphisms in the PNPLA3 region (rs738408, rs738409, rs2294918, rs2294919 and rs2281135) were with related to various kinds of liver diseases. 28617615 2017
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Besides rs738409 I148M, the rs2294918 G>A polymorphism (E434K sequence variant) was over-represented in NAFLD (adjusted P = 0.01). 26605757 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.010 GeneticVariation BEFREE However, PNPLA3 rs2294918 E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on the predisposition to steatosis and liver damage. 26605757 2016