Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994098
rs113994098
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994098
rs113994098
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002