Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994094
rs113994094
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. 25585994

2015

dbSNP: rs113994094
rs113994094
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013

dbSNP: rs113994094
rs113994094
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011