Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs748597500
DGUOK
0.882 2 73950732 splice region variant G/A snv 4.0E-05 4.9E-05 3
rs863223949
DGUOK
0.925 2 73957135 frameshift variant GA/- delins 8.0E-06 2