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: rs587783017
rs587783017
CEP290
4 0.851 0.200 12 88055667 frameshift variant T/-;TT delins 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 1.000 3 2006 2010
dbSNP: rs760540562
rs760540562
CEP290
3 0.882 0.200 12 88058868 stop gained C/T snv 1.3E-04 2.1E-05 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 1.000 3 2006 2010
dbSNP: rs766670248
rs766670248
CEP290
3 0.882 0.200 12 88060995 splice acceptor variant C/T snv 4.5E-05 1.4E-05 0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
3 0.882 0.200 12 88071370 frameshift variant CTCGT/- del 0.700 0
dbSNP: rs62638180
rs62638180
CEP290
3 0.882 0.200 12 88071819 frameshift variant TAAAG/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs878855334
rs878855334
CEP290
1 1.000 0.080 12 88077224 stop gained T/A;C snv 4.2E-06 0.700 0
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 12 2006 2016
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 0.700 0
dbSNP: rs386834158
rs386834158
CEP290
10 0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs757609119
rs757609119
CEP290
3 0.882 0.200 12 88077848 frameshift variant CT/- delins 1.1E-05 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1555205328
rs1555205328
CEP290
3 0.882 0.200 12 88080196 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 4 2007 2016
dbSNP: rs62638179
rs62638179
CEP290
3 0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05 0.700 1.000 5 2006 2017
dbSNP: rs764309755
rs764309755
CEP290
3 0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05 0.700 1.000 5 2007 2016
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 2 2007 2017
dbSNP: rs369523378
rs369523378
CEP290
3 0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04 0.700 1.000 3 2006 2010
dbSNP: rs780624853
rs780624853
CEP290
4 0.851 0.240 12 88084835 frameshift variant TTCT/- delins 1.0E-05 2.8E-05 0.700 0
dbSNP: rs747323414
rs747323414
CEP290
3 0.882 0.200 12 88084855 splice region variant G/- del 2.6E-05 4.2E-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 1.000 3 2006 2010
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 2 2010 2018
dbSNP: rs1213286417
rs1213286417
CEP290
3 0.882 0.200 12 88089033 frameshift variant T/- delins 2.8E-05 0.700 1.000 2 2007 2018
dbSNP: rs1555212150
rs1555212150
CEP290
3 0.882 0.200 12 88093873 stop gained TC/CA mnv 0.700 0
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 5 2006 2016