Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 12
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 8
rs121918044
POLG
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 6
rs144500145
POLG
0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05 6
rs201732356
POLG
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06 6