Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913037
rs121913037
TYMP
0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs121913038
rs121913038
TYMP
0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs28931613
rs28931613
TYMP
0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs28931613
rs28931613
TYMP
T 0.800 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs121913037
rs121913037
TYMP
T 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913037
rs121913037
TYMP
0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913038
rs121913038
TYMP
0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913038
rs121913038
TYMP
T 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs28931613
rs28931613
TYMP
0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 23430799

2013
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
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: rs1054084896
rs1054084896
TYMP
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1060499532
rs1060499532
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1060499534
rs1060499534
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792857
rs1064792857
TYMP
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792860
rs1064792860
TYMP
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792867
rs1064792867
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792869
rs1064792869
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792872
rs1064792872
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792877
rs1064792877
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792877
rs1064792877
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792886
rs1064792886
TYMP
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011