Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908508
rs121908508
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28937598
rs28937598
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28937868
rs28937868
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs74315512
rs74315512
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80358232
rs80358232
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR