Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225184
rs863225184
CEP290
1 1.000 0.200 12 88093903 frameshift variant A/- del 0.700 1.000 1 2015 2015