ABI1, abl interactor 1, 10006

N. diseases: 56; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519354
rs1057519354
Entrez Id: 10006;23590
Gene Symbol: ABI1;PDSS1
ABI1;PDSS1
CUI: C3553354
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		C 0.700 CausalMutation CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012