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: 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 2019 2019
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: rs281865188
rs281865188
CEP290
1 1.000 0.080 12 88077281 frameshift variant -/T delins 7.0E-06 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