Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792880
rs1064792880
TYMP
TG 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000