Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200088200
rs200088200
PNPT1
C 0.700 GeneticVariation CLINVAR Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 27759031

2016
dbSNP: rs200088200
rs200088200
PNPT1
C 0.700 GeneticVariation CLINVAR Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291

2012