Source: UNIPROT

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: rs139590686
rs139590686
POLG
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 7 2004 2017