Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224072
rs863224072
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.700 GeneticVariation CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014