Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749838192
rs749838192
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
CTGAGTCACTGCTGCATGCT 0.700 GeneticVariation CLINVAR A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436

2010

dbSNP: rs1471478620
rs1471478620
Mitochondrial DNA Depletion Syndrome 1
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs121913039
rs121913039
Mitochondrial DNA Depletion Syndrome 1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064792878
rs1064792878
Mitochondrial DNA Depletion Syndrome 1
T 0.700 GeneticVariation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009

dbSNP: rs80358232
rs80358232
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
A 0.800 CausalMutation CLINVAR

dbSNP: rs74315511
rs74315511
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs74315511
rs74315511
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
T 0.800 CausalMutation CLINVAR

dbSNP: rs28937868
rs28937868
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
T 0.800 CausalMutation CLINVAR

dbSNP: rs28937598
rs28937598
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
A 0.800 CausalMutation CLINVAR

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

1999

dbSNP: rs946234163
rs946234163
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000

dbSNP: rs892141220
rs892141220
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

dbSNP: rs866001342
rs866001342
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005

dbSNP: rs797044455
rs797044455
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999

dbSNP: rs797044455
rs797044455
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000

dbSNP: rs786205098
rs786205098
Mitochondrial DNA Depletion Syndrome 1
A 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999

dbSNP: rs786205097
rs786205097
Mitochondrial DNA Depletion Syndrome 1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs773785934
rs773785934
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999

dbSNP: rs770277446
rs770277446
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003

dbSNP: rs764275775
rs764275775
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

dbSNP: rs761665644
rs761665644
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR

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

dbSNP: rs761665644
rs761665644
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
G 0.700 CausalMutation CLINVAR

dbSNP: rs74315512
rs74315512
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
A 0.700 CausalMutation CLINVAR