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: rs1278679056
rs1278679056
CEP290
3 0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
3 0.882 0.200 12 88071370 frameshift variant CTCGT/- del 0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
3 0.882 0.200 12 88080196 stop gained C/A snv 0.700 0
dbSNP: rs1555212150
rs1555212150
CEP290
3 0.882 0.200 12 88093873 stop gained TC/CA mnv 0.700 0
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 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: rs757641323
rs757641323
CEP290
3 0.882 0.200 12 88131209 stop gained G/A snv 1.4E-05 0.700 0
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: 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: rs772170760
rs772170760
CEP290
3 0.882 0.200 12 88130553 stop gained T/A snv 1.4E-05 3.5E-05 0.700 0
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: rs863225183
rs863225183
CEP290
4 0.851 0.240 12 88111799 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs878855334
rs878855334
CEP290
1 1.000 0.080 12 88077224 stop gained T/A;C snv 4.2E-06 0.700 0
dbSNP: rs886043303
rs886043303
CEP290
5 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
dbSNP: rs1555225566
rs1555225566
CEP290
3 0.882 0.200 12 88129718 frameshift variant T/- delins 0.700 1.000 1 2013 2013
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: rs587783017
rs587783017
CEP290
4 0.851 0.200 12 88055667 frameshift variant T/-;TT delins 0.700 1.000 1 2015 2015
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: 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: rs758593134
rs758593134
CEP290 ; TMTC3
4 0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06 0.700 1.000 1 2010 2010
dbSNP: rs1170451277
rs1170451277
CEP290
8 0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05 0.700 1.000 2 2011 2012
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: 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: 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: 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