Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Universal heteroplasmy of human mitochondrial DNA. 23077218

2013
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. 23208208

2013
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 19752458

2009
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Depletion of mtDNA: syndromes and genes. 17280874

2007
dbSNP: rs368435864
rs368435864
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006