Source: CLINVAR ×
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
4 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.800 1.000 4 1998 2001
dbSNP: rs61751374
rs61751374
ABCA4
8 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.800 1.000 0 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 0 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
7 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: 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: 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
dbSNP: rs200692438
rs200692438
ABCA4
2 0.925 0.080 1 94060733 missense variant A/C snv 3.8E-04 3.2E-04 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
dbSNP: rs387906388
rs387906388
ABCA4
1 1.000 0.080 1 94040095 frameshift variant GAGAAACCCTTAGACG/- delins 0.700 0
dbSNP: rs55732384
rs55732384
ABCA4
4 0.851 0.080 1 94111561 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs61748558
rs61748558
ABCA4
5 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs61749412
rs61749412
ABCA4
2 0.925 0.080 1 94062695 missense variant C/A;G;T snv 2.8E-05 0.700 0
dbSNP: rs61749420
rs61749420
ABCA4
4 0.851 0.080 1 94060740 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs61750126
rs61750126
ABCA4
2 0.925 0.080 1 94040048 missense variant A/C snv 6.7E-03 2.8E-02 0.700 0
dbSNP: rs61750130
rs61750130
ABCA4
6 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
dbSNP: rs61750146
rs61750146
ABCA4
4 0.851 0.080 1 94029522 missense variant A/G snv 8.2E-06 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