Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776438
rs587776438
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 Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. 20202874 2010