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: rs62635288
rs62635288
CEP290 ; TMTC3
3 0.882 0.240 12 88141287 missense variant C/A snv 0.800 1.000 6 2006 2015
dbSNP: rs267606719
rs267606719
CEP290
2 0.925 0.240 12 88077227 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs727503855
rs727503855
CEP290
6 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs753884599
rs753884599
CEP290
1 1.000 0.200 12 88111318 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs758550675
rs758550675
CEP290 ; TMTC3
1 1.000 0.200 12 88140969 frameshift variant GAGT/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs779262951
rs779262951
CEP290
1 1.000 0.200 12 88068585 stop gained G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225182
rs863225182
CEP290
1 1.000 0.200 12 88086092 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225183
rs863225183
CEP290
4 0.851 0.240 12 88111799 frameshift variant T/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225184
rs863225184
CEP290
1 1.000 0.200 12 88093903 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs863225185
rs863225185
CEP290
2 0.925 0.280 12 88130283 stop gained A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225186
rs863225186
CEP290
1 1.000 0.200 12 88118642 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225187
rs863225187
CEP290
1 1.000 0.200 12 88055597 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225188
rs863225188
CEP290 ; TMTC3
1 1.000 0.200 12 88141034 splice acceptor variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225189
rs863225189
CEP290
1 1.000 0.200 12 88093894 frameshift variant A/- del 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1060499781
rs1060499781
CEP290
4 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
8 0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
2 1.000 0.200 12 88118660 stop gained G/A;C snv 0.700 0
dbSNP: rs1555208870
rs1555208870
CEP290
1 1.000 0.200 12 88087814 frameshift variant -/T delins 0.700 0
dbSNP: rs1555218898
rs1555218898
CEP290
1 1.000 0.200 12 88111251 frameshift variant -/T delins 0.700 0
dbSNP: rs281865192
rs281865192
CEP290
11 0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 0.700 0
dbSNP: rs797044604
rs797044604
CEP290
5 0.827 0.280 12 88086450 stop gained C/A snv 0.700 0
dbSNP: rs895126773
rs895126773
CEP290
1 1.000 0.200 12 88118666 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587783016
rs587783016
CEP290
2 0.925 0.200 12 88089157 stop gained G/A snv 4.2E-06 0.700 1.000 1 2015 2015
dbSNP: rs727503853
rs727503853
CEP290
1 1.000 0.200 12 88077317 frameshift variant GTTT/- delins 2.8E-05; 4.6E-06 0.700 1.000 1 2015 2015
dbSNP: rs771454167
rs771454167
CEP290
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 1.000 1 2015 2015