Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913038
rs121913038
0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002

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

1999

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

1999