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: rs749526785
rs749526785
ABCA4
2 0.925 0.080 1 93997842 splice region variant GCCCCAGGGCCAACT/- delins 6.8E-05 0.700 0
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: rs61753044
rs61753044
ABCA4
1 1.000 0.080 1 94000878 missense variant C/T snv 0.700 1.000 3 2000 2001
dbSNP: rs951379922
rs951379922
ABCA4
1 1.000 0.080 1 94001908 missense variant T/G snv 4.0E-06 0.700 0
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: rs61753039
rs61753039
ABCA4
1 1.000 0.080 1 94001961 missense variant A/C snv 0.700 1.000 3 2000 2001
dbSNP: rs61753038
rs61753038
ABCA4
4 0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs61750641
rs61750641
ABCA4
7 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 0
dbSNP: rs61751383
rs61751383
ABCA4
6 0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs61751408
rs61751408
ABCA4
5 0.851 0.080 1 94005509 missense variant G/A snv 2.0E-04 1.7E-04 0.700 0
dbSNP: rs886044758
rs886044758
ABCA4
4 0.851 0.080 1 94005511 missense variant A/G 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: 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: rs61753033
rs61753033
ABCA4
4 0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05 0.700 0
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: 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: rs748706582
rs748706582
ABCA4
1 1.000 0.080 1 94014670 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909206
rs121909206
ABCA4
2 0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06 0.700 0
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: 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: 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: rs1553188916
rs1553188916
ABCA4
1 1.000 0.080 1 94025021 stop gained G/A snv 0.700 0
dbSNP: rs61751388
rs61751388
ABCA4
2 0.925 0.080 1 94029444 splice donor variant C/A snv 0.700 0
dbSNP: rs281865377
rs281865377
ABCA4
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 0