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: 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 6 1998 2001
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.800 1.000 3 2000 2001
dbSNP: rs76157638
rs76157638
ABCA4
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.800 1.000 3 2000 2001
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 10 2000 2014
dbSNP: rs61749409
rs61749409
ABCA4
4 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.700 1.000 6 1999 2017
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.700 1.000 5 2000 2016
dbSNP: rs61751407
rs61751407
ABCA4
4 0.882 0.080 1 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04 0.700 1.000 5 1998 2013
dbSNP: rs61750155
rs61750155
ABCA4
2 0.925 0.080 1 94021695 missense variant G/T snv 2.4E-05 2.8E-05 0.700 1.000 3 2000 2001
dbSNP: rs61751264
rs61751264
ABCA4
2 0.925 0.080 1 94079341 missense variant G/A snv 0.700 1.000 3 2000 2001
dbSNP: rs61751384
rs61751384
ABCA4
2 0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-05 0.700 1.000 3 2000 2001
dbSNP: rs61751392
rs61751392
ABCA4
7 0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 0.700 1.000 3 2000 2001
dbSNP: rs61751399
rs61751399
ABCA4
3 0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 3 2000 2001
dbSNP: rs61751402
rs61751402
ABCA4
4 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.700 1.000 3 2000 2001
dbSNP: rs61751403
rs61751403
ABCA4
2 0.925 0.080 1 94021339 missense variant C/T snv 3.2E-05 2.1E-05 0.700 1.000 3 2000 2001
dbSNP: rs61751404
rs61751404
ABCA4
4 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 3 2000 2001
dbSNP: rs61753039
rs61753039
ABCA4
1 1.000 0.080 1 94001961 missense variant A/C snv 0.700 1.000 3 2000 2001
dbSNP: rs61753044
rs61753044
ABCA4
1 1.000 0.080 1 94000878 missense variant C/T snv 0.700 1.000 3 2000 2001
dbSNP: rs61750645
rs61750645
ABCA4
3 0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2008 2013
dbSNP: rs1557787559
rs1557787559
ABCA4
1 1.000 0.080 1 94062749 frameshift variant A/- delins 0.700 1.000 1 2018 2018
dbSNP: rs121909206
rs121909206
ABCA4
2 0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1553187160
rs1553187160
ABCA4
1 1.000 0.080 1 94007741 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1553188916
rs1553188916
ABCA4
1 1.000 0.080 1 94025021 stop gained G/A snv 0.700 0
dbSNP: rs1553193813
rs1553193813
ABCA4
2 1.000 0.080 1 94077747 stop gained C/T snv 0.700 0
dbSNP: rs1762111
rs1762111
ABCA4
5 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 0
dbSNP: rs1801269
rs1801269
ABCA4
4 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.700 0