Gene: CEP290 ×
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: rs1057518822
rs1057518822
CEP290
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
dbSNP: rs886043303
rs886043303
CEP290
5 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0