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: rs371525247
rs371525247
CEP290
1 1.000 0.200 12 88071373 stop gained G/A snv 1.2E-05 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: rs748034744
rs748034744
CEP290
1 1.000 0.200 12 88111226 synonymous variant A/G snv 2.1E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs749439750
rs749439750
CEP290
1 1.000 0.200 12 88084768 stop gained G/A snv 8.0E-06 2.1E-05 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: rs863225184
rs863225184
CEP290
1 1.000 0.200 12 88093903 frameshift variant A/- del 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: rs117852025
rs117852025
CEP290
1 1.000 0.200 12 88060951 missense variant A/G snv 7.6E-03 5.1E-03 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: rs561598805
rs561598805
CEP290
2 1.000 0.200 12 88071860 stop gained G/A;T snv 2.1E-05; 5.5E-05 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: rs267606719
rs267606719
CEP290
2 0.925 0.240 12 88077227 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs386834148
rs386834148
CEP290
2 0.925 0.280 12 88121136 frameshift variant AT/- delins 7.2E-05 7.0E-05 0.700 1.000 1 2015 2015
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: rs863225185
rs863225185
CEP290
2 0.925 0.280 12 88130283 stop gained A/C snv 0.700 1.000 1 2015 2015
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: rs756302731
rs756302731
CEP290
4 0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06 0.700 1.000 1 2015 2015