Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1001570418
rs1001570418
POLG
T 0.700 CausalMutation CLINVAR

dbSNP: rs1003442806
rs1003442806
POLG
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518035
rs1057518035
POLG ; FANCI
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064794213
rs1064794213
POLG
TCGG 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794214
rs1064794214
POLG
A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs1085307741
rs1085307741
POLG ; FANCI
A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
T 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: rs1131691575
rs1131691575
POLG ; FANCI
T 0.700 CausalMutation CLINVAR Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. 16957900

2007
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
T 0.700 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034

2009
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
T 0.700 CausalMutation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
dbSNP: rs113994094
rs113994094
POLG
A 0.800 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
POLG
0.800 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411

2006
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359

2005
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042

2005
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 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
0.840 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.840 CausalMutation CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830

2014