Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780529
rs587780529
Entrez Id: 4514;4537;4538;4539
Gene Symbol: COX3;ND3;ND4;ND4L
COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease
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