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: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 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: rs111699024
rs111699024
ATOH7
3 0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06 0.010 1.000 1 2010 2010
dbSNP: rs1177783734
rs1177783734
ASAH1 ; LOC101929066
4 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs730882241
rs730882241
ARV1
3 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2017 2018
dbSNP: rs539612316
rs539612316
ALMS1
4 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs61750654
rs61750654
ABCA4
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0