Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909724
rs121909724
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.700 GeneticVariation CLINVAR Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
dbSNP: rs121909724
rs121909724
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.700 CausalMutation CLINVAR