Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149977726
rs149977726
C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999

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 Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. 23341816

2012

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

2011

dbSNP: rs1060499534
rs1060499534
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2011

dbSNP: rs1064792869
rs1064792869
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792872
rs1064792872
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2011

dbSNP: rs1064792877
rs1064792877
C 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: rs1064792891
rs1064792891
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs1064792892
rs1064792892
TT 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

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

2011

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

2011

dbSNP: rs764275775
rs764275775
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011

dbSNP: rs121913036
rs121913036
G 0.700 CausalMutation CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198

2010

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

2009

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

2009

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

2009

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

2009

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

2009

dbSNP: rs121913041
rs121913041
T 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009

dbSNP: rs11479
rs11479
T 0.700 CausalMutation CLINVAR Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 17437622

2007

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