Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034

2009
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742

2006
dbSNP: rs113994096
rs113994096
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003