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
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs144437882
rs144437882
1 1.000 0.040 6 76003929 missense variant G/A;T snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs1553195472
rs1553195472
1 1.000 0.040 1 94098843 missense variant A/C snv 0.700 0
dbSNP: rs1553196583
rs1553196583
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0
dbSNP: rs1553348960
rs1553348960
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs1553515435
rs1553515435
3 0.925 0.040 2 181566055 splice region variant T/C snv 0.700 0
dbSNP: rs1554604767
rs1554604767
2 0.925 0.120 8 86578688 splice donor variant C/T snv 0.700 0
dbSNP: rs1555801963
rs1555801963
CRX
1 1.000 0.040 19 47839362 stop gained C/T snv 0.700 0
dbSNP: rs1555961220
rs1555961220
1 1.000 0.040 X 38285546 missense variant C/A snv 0.700 0
dbSNP: rs398122391
rs398122391
3 0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 0.700 0
dbSNP: rs749537392
rs749537392
1 1.000 0.040 1 161819741 missense variant G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs753657349
rs753657349
2 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs771454167
rs771454167
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs777103184
rs777103184
6 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs104893967
rs104893967
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs62642564
rs62642564
2 0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03 0.700 1.000 1 1998 1998
dbSNP: rs61751263
rs61751263
3 0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs61748545
rs61748545
2 0.925 0.040 1 94080651 missense variant G/C snv 1.0E-04 3.8E-04 0.700 1.000 1 2001 2001
dbSNP: rs61748556
rs61748556
2 0.925 0.040 1 94063263 missense variant G/A snv 2.4E-05 2.8E-05 0.700 1.000 1 2003 2003
dbSNP: rs61749455
rs61749455
3 0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs724159985
rs724159985
2 0.925 0.160 16 68679936 frameshift variant G/- delins 0.700 1.000 1 2003 2003
dbSNP: rs281865377
rs281865377
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 2 2001 2008
dbSNP: rs1556313414
rs1556313414
RP2
1 1.000 0.040 X 46837109 inframe deletion TCT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs61755792
rs61755792
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1995 2009
dbSNP: rs751163782
rs751163782
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015