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: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.830 1.000 19 1997 2019
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.820 1.000 32 1997 2019
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
7 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.800 1.000 24 1997 2017
dbSNP: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.800 1.000 20 1997 2019
dbSNP: rs61750130
rs61750130
ABCA4
7 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.800 1.000 20 1997 2019
dbSNP: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 17 2000 2019
dbSNP: rs62645944
rs62645944
ABCA4
7 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.710 1.000 9 1999 2017
dbSNP: rs281865377
rs281865377
ABCA4
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 0
dbSNP: rs61751392
rs61751392
ABCA4
7 0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 0.800 1.000 29 1997 2019
dbSNP: rs61748558
rs61748558
ABCA4
5 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 19 1997 2014
dbSNP: rs61751383
rs61751383
ABCA4
6 0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05 0.700 1.000 2 1999 2019
dbSNP: rs76157638
rs76157638
ABCA4
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.830 1.000 37 1997 2019
dbSNP: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.810 1.000 26 1997 2019
dbSNP: rs61751408
rs61751408
ABCA4
5 0.851 0.080 1 94005509 missense variant G/A snv 2.0E-04 1.7E-04 0.800 1.000 25 1997 2017
dbSNP: rs61750146
rs61750146
ABCA4
4 0.851 0.080 1 94029522 missense variant A/G snv 8.2E-06 7.0E-06 0.800 1.000 23 1997 2017
dbSNP: rs61749420
rs61749420
ABCA4
4 0.851 0.080 1 94060740 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 21 1997 2017
dbSNP: rs281865404
rs281865404
ABCA4
4 0.851 0.080 1 94014675 missense variant GG/CA mnv 0.710 1.000 20 1997 2014
dbSNP: rs55732384
rs55732384
ABCA4
4 0.851 0.080 1 94111561 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 20 1997 2017
dbSNP: rs1800552
rs1800552
ABCA4
4 0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03 0.800 1.000 8 1997 2019
dbSNP: rs1762111
rs1762111
ABCA4
5 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.800 1.000 6 1997 2019
dbSNP: rs1801269
rs1801269
ABCA4
4 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.810 1.000 6 1997 2017
dbSNP: rs61753038
rs61753038
ABCA4
4 0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06 0.710 1.000 2 2003 2019
dbSNP: rs398123339
rs398123339
ABCA4
5 0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 0.700 1.000 1 2017 2017