Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792871
rs1064792871
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. 15505189

2004