Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780529
rs587780529
COX3 ; ND3 ; ND4 ; ND4L
A 0.700 CausalMutation CLINVAR Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. 25118196

2014