Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792888
rs1064792888
A 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005

dbSNP: rs121913040
rs121913040
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

1999

dbSNP: rs1471478620
rs1471478620
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs786205097
rs786205097
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1064792881
rs1064792881
AGCCGTCGTCCAGCGCCGC 0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002

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

1999

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

2000

dbSNP: rs1064792867
rs1064792867
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2004

dbSNP: rs1064792877
rs1064792877
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792887
rs1064792887
C 0.700 CausalMutation CLINVAR MNGIE: diarrhea and leukoencephalopathy. 12084896

2002

dbSNP: rs1556488264
rs1556488264
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060499532
rs1060499532
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2003

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

2004

dbSNP: rs1064792868
rs1064792868
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: rs1064792870
rs1064792870
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

dbSNP: rs1064792877
rs1064792877
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792889
rs1064792889
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792890
rs1064792890
G 0.700 CausalMutation CLINVAR Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. 16198108

2005

dbSNP: rs1064792891
rs1064792891
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs121913036
rs121913036
G 0.700 CausalMutation CLINVAR MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 23430799

2013

dbSNP: rs121913036
rs121913036
G 0.700 CausalMutation CLINVAR Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 19344718

2009

dbSNP: rs121913036
rs121913036
G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999