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: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs281865192
rs281865192
CEP290
11 0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 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 1.000 1 2015 2015
dbSNP: rs539400286
rs539400286
CEP290
9 0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs1170451277
rs1170451277
CEP290
8 0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs760915898
rs760915898
CEP290
8 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0
dbSNP: rs776645403
rs776645403
CEP290
8 0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05 0.700 0
dbSNP: rs965522059
rs965522059
CEP290
8 0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05 0.700 0
dbSNP: rs386834152
rs386834152
CEP290
7 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 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: rs575767207
rs575767207
CEP290
5 0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs62640570
rs62640570
CEP290
5 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 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
dbSNP: rs386834157
rs386834157
CEP290
5 0.827 0.280 12 88136697 frameshift variant ATCT/- delins 5.6E-05 8.4E-05 0.700 0
dbSNP: rs797044604
rs797044604
CEP290
5 0.827 0.280 12 88086450 stop gained C/A snv 0.700 0
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
dbSNP: rs780624853
rs780624853
CEP290
4 0.851 0.240 12 88084835 frameshift variant TTCT/- delins 1.0E-05 2.8E-05 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: rs1060499781
rs1060499781
CEP290
4 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 0
dbSNP: rs201218801
rs201218801
CEP290
4 0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05 0.700 0
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: 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