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: 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: 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: 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: rs61751402
rs61751402
ABCA4
4 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.810 1.000 28 1997 2017
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: rs61749409
rs61749409
ABCA4
4 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.810 1.000 25 1997 2017
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.800 1.000 25 1997 2017
dbSNP: rs61751384
rs61751384
ABCA4
2 0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-05 0.800 1.000 25 1997 2017
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: rs61750126
rs61750126
ABCA4
2 0.925 0.080 1 94040048 missense variant A/C snv 6.7E-03 2.8E-02 0.800 1.000 24 1997 2017
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: rs150774447
rs150774447
ABCA4
2 1.000 1 94111579 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.800 1.000 23 1997 2017
dbSNP: rs61750135
rs61750135
ABCA4
2 1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05 0.800 1.000 23 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: rs61750645
rs61750645
ABCA4
3 0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.800 1.000 23 1997 2019
dbSNP: rs61751403
rs61751403
ABCA4
2 0.925 0.080 1 94021339 missense variant C/T snv 3.2E-05 2.1E-05 0.800 1.000 23 1997 2019
dbSNP: rs61751404
rs61751404
ABCA4
4 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.800 1.000 23 1997 2019
dbSNP: rs61749440
rs61749440
ABCA4
1 1.000 1 94048921 missense variant G/A snv 1.2E-03 1.3E-03 0.800 1.000 22 1997 2017
dbSNP: rs61750648
rs61750648
ABCA4
1 1.000 1 94001072 missense variant G/A snv 1.0E-04 3.3E-04 0.800 1.000 22 1997 2017
dbSNP: rs61751395
rs61751395
ABCA4
1 1.000 1 94056683 missense variant A/T snv 2.0E-05 3.5E-05 0.800 1.000 22 1997 2017
dbSNP: rs61752398
rs61752398
ABCA4
1 1.000 1 94062692 missense variant A/G;T snv 1.2E-05 0.800 1.000 22 1997 2017
dbSNP: rs61752416
rs61752416
ABCA4
1 1.000 1 94042828 missense variant T/G snv 0.800 1.000 22 1997 2017
dbSNP: rs62642573
rs62642573
ABCA4
1 1.000 1 94031054 stop gained C/A;T snv 1.2E-05; 2.4E-05 0.800 1.000 22 1997 2017
dbSNP: rs121909205
rs121909205
ABCA4
2 1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05 0.800 1.000 21 1997 2017
dbSNP: rs61748556
rs61748556
ABCA4
2 0.925 0.040 1 94063263 missense variant G/A snv 2.4E-05 2.8E-05 0.800 1.000 21 1997 2017