DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs738409, PNPLA3

N. diseases: 88

Disease: Chronic viral hepatitis ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Chronic viral hepatitis

CUI:	C0276623
Disease:	Chronic viral hepatitis

0.010

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