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: rs61750064
rs61750064
ABCA4
1 1.000 1 94042878 frameshift variant -/AC ins 8.0E-06 0.700 0
dbSNP: rs281865404
rs281865404
ABCA4
4 0.851 0.080 1 94014675 missense variant GG/CA mnv 0.710 1.000 20 1997 2014
dbSNP: rs886044760
rs886044760
ABCA4
1 1.000 1 94001107 splice acceptor variant TG/CT mnv 0.700 1.000 1 2017 2017
dbSNP: rs61751389
rs61751389
ABCA4
4 0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06 0.700 1.000 3 2000 2017
dbSNP: rs764759172
rs764759172
ABCA4
3 0.925 0.040 1 94080692 frameshift variant G/- del 0.700 1.000 1 2019 2019
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 0
dbSNP: rs62645948
rs62645948
ABCA4
1 1.000 1 94111443 frameshift variant -/T delins 0.700 1.000 2 2000 2017
dbSNP: rs886044736
rs886044736
ABCA4
1 1.000 1 94040117 frameshift variant -/TGCA delins 0.700 1.000 2 2000 2017
dbSNP: rs1402837406
rs1402837406
KCNV2
3 0.882 0.080 9 2718093 frameshift variant CC/-;CCC delins 2.8E-05 0.700 1.000 1 2019 2019
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: rs387906385
rs387906385
ABCA4
2 0.925 0.080 1 94042877 frameshift variant -/CA delins 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs61750566
rs61750566
ABCA4
1 1.000 1 94019616 frameshift variant TG/- delins 0.700 1.000 1 1999 1999
dbSNP: rs886044735
rs886044735
ABCA4
2 0.925 0.080 1 94043433 frameshift variant T/- delins 0.700 1.000 1 2017 2017
dbSNP: rs886044745
rs886044745
ABCA4
1 1.000 1 94023413 frameshift variant T/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1553192715
rs1553192715
ABCA4
1 1.000 1 94063250 frameshift variant AG/- delins 0.700 0
dbSNP: rs1553196583
rs1553196583
ABCA4
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0
dbSNP: rs61752410
rs61752410
ABCA4
2 0.925 0.080 1 94046949 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs63749083
rs63749083
ABCA4
1 1.000 1 94080539 frameshift variant ATAGTTATTGTCTT/- delins 0.700 0
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