Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635

2013
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405

2011