Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
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 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. 18783964

2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009
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 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008
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 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 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 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR