Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709

2006
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. 29588995

2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study. 19538466

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011