Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519353
rs1057519353
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
CUI: C3553354
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		CT 0.700 CausalMutation CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012