Disease: Chronic progressive external ophthalmoplegia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs1554887097
MRPL43 ; TWNK
0.807 0.320 10 100989331 missense variant G/A snv 10