Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836

2019

dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017

dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016

dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490

2016

dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203

2008

dbSNP: rs113994097
rs113994097
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723

2007