Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918054
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 9 2006 2015