Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 21138766

2011

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. 18585914

2008

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. 18195151

2008

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032

2006