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: 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 2019 2019
dbSNP: rs62635288
rs62635288
CEP290 ; TMTC3
3 0.882 0.240 12 88141287 missense variant C/A snv 0.700 1.000 1 2006 2006
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 2019 2019
dbSNP: rs1555220638
rs1555220638
CEP290
1 1.000 0.040 12 88114573 intron variant A/C snv 0.700 0
dbSNP: rs1555222073
rs1555222073
CEP290
1 1.000 0.040 12 88118638 missense variant C/T snv 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: rs539400286
rs539400286
CEP290
9 0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs727503855
rs727503855
CEP290
6 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 0