Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		T 0.800 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: 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: 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: rs786205097
rs786205097
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		G 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		G 0.700 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: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		A 0.700 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: rs1556488264
rs1556488264
TYMP ; SCO2
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1471478620
rs1471478620
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AG 0.700 GeneticVariation CLINVAR

dbSNP: rs121913039
rs121913039
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 GeneticVariation CLINVAR

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: rs1064792875
rs1064792875
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs149977726
rs149977726
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999