Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499533
rs1060499533
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003