Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777786
rs587777786
Entrez Id: 3831;84334
Gene Symbol: KLC1;COA8
KLC1;COA8
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
C 0.700 CausalMutation CLINVAR