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: rs151344517
rs151344517
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
0.700 1.000 1 2010 2010