Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1060499532
rs1060499532
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1060499533
rs1060499533
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003

dbSNP: rs1060499534
rs1060499534
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1060499535
rs1060499535
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009

dbSNP: rs1064792865
rs1064792865
Mitochondrial DNA Depletion Syndrome 1
C 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000

dbSNP: rs1064792866
rs1064792866
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

dbSNP: rs1064792867
rs1064792867
Mitochondrial DNA Depletion Syndrome 1
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792868
rs1064792868
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 15742109

2005

dbSNP: rs1064792869
rs1064792869
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792870
rs1064792870
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

dbSNP: rs1064792871
rs1064792871
Mitochondrial DNA Depletion Syndrome 1
C 0.700 CausalMutation CLINVAR Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. 15505189

2004

dbSNP: rs1064792872
rs1064792872
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792873
rs1064792873
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005

dbSNP: rs1064792874
rs1064792874
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

dbSNP: rs1064792875
rs1064792875
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064792876
rs1064792876
Mitochondrial DNA Depletion Syndrome 1
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005

dbSNP: rs1064792877
rs1064792877
Mitochondrial DNA Depletion Syndrome 1
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792877
rs1064792877
Mitochondrial DNA Depletion Syndrome 1
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2009

dbSNP: rs1064792879
rs1064792879
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: rs1064792881
rs1064792881
Mitochondrial DNA Depletion Syndrome 1
AGCCGTCGTCCAGCGCCGC 0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002

dbSNP: rs1064792885
rs1064792885
Mitochondrial DNA Depletion Syndrome 1
GA 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009

dbSNP: rs1064792887
rs1064792887
Mitochondrial DNA Depletion Syndrome 1
C 0.700 CausalMutation CLINVAR MNGIE: diarrhea and leukoencephalopathy. 12084896

2002