POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: POLG mutation ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994099
rs113994099 		0.827 0.240 15 89320883 missense variant T/C snv
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2007 2007