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: rs1800553
rs1800553
ABCA4
12 0.769 0.143 1 94008251 missense variant C/T snp 4.7E-03 3.5E-03 0.800 25 1997 2017
dbSNP: rs61751374
rs61751374
ABCA4
7 0.821 0.071 1 94043413 missense variant G/A snp 1.7E-03 2.4E-03 0.800 21 1997 2017
dbSNP: rs61751402
rs61751402
ABCA4
6 0.846 0.071 1 94029515 missense variant C/T snp 6.3E-05 3.2E-05 0.800 11 1999 2017
dbSNP: rs150774447
rs150774447
ABCA4
6 0.821 0.071 1 94111579 missense variant C/A,T snp 4.0E-06; 2.4E-05 1.3E-04 0.800 9 1999 2017
dbSNP: rs61751408
rs61751408
ABCA4
5 0.846 0.071 1 94005509 missense variant G/A snp 2.0E-04 1.9E-04 0.800 9 1997 2017
dbSNP: rs201471607
rs201471607
ABCA4
5 0.878 0.071 1 94046943 missense variant T/C snp 1.4E-04 0.800 8 1997 2017
dbSNP: rs61751384
rs61751384
ABCA4
5 0.846 0.071 1 94000866 missense variant C/T snp 2.4E-05 6.4E-05 0.800 8 1999 2017
dbSNP: rs61749409
rs61749409
ABCA4
5 0.878 0.071 1 94062710 missense variant G/A snp 4.4E-05 0.800 7 1999 2017
dbSNP: rs61750130
rs61750130
ABCA4
6 0.821 0.250 1 94031110 missense variant G/A snp 2.4E-04 1.9E-04 0.800 7 1999 2017
dbSNP: rs61750645
rs61750645
ABCA4
6 0.846 0.071 1 94001911 missense variant G/A,C,T snp 4.0E-06; 4.0E-06 3.2E-05 0.800 7 1997 2017
dbSNP: rs1801269
rs1801269
ABCA4
5 0.846 0.071 1 94041345 missense variant C/A,T snp 3.1E-04; 4.0E-06 2.2E-04 0.800 6 1997 2017
dbSNP: rs61750120
rs61750120
ABCA4
6 0.821 0.143 1 94042767 missense variant G/A snp 1.2E-04 1.9E-04 0.800 6 2009 2017
dbSNP: rs61750145
rs61750145
ABCA4
4 0.878 0.071 1 94029527 missense variant G/A snp 1.2E-04 0.800 6 1999 2017
dbSNP: rs61750641
rs61750641
ABCA4
4 0.878 0.071 1 94005499 missense variant C/T snp 3.5E-04 3.5E-04 0.800 6 1999 2017
dbSNP: rs61751395
rs61751395
ABCA4
4 0.878 0.071 1 94056683 missense variant A/T snp 2.0E-05 0.800 6 2000 2017
dbSNP: rs61749412
rs61749412
ABCA4
5 0.846 0.071 1 94062695 missense variant C/A,T snp 2.8E-05 3.2E-05 0.800 5 2000 2017
dbSNP: rs62642573
rs62642573
ABCA4
4 0.878 0.071 1 94031054 stop gained C/A,T snp 1.2E-05; 2.4E-05 3.2E-05 0.800 5 2000 2017
dbSNP: rs121909205
rs121909205
ABCA4
4 0.878 0.071 1 94120994 missense variant G/A,T snp 1.6E-05; 3.6E-05 0.800 4 1998 2017
dbSNP: rs55732384
rs55732384
ABCA4
4 0.878 0.071 1 94111561 missense variant G/A snp 1.6E-05 0.800 4 1999 2017
dbSNP: rs61749420
rs61749420
ABCA4
4 0.878 0.071 1 94060740 missense variant G/A snp 1.6E-05 0.800 4 2000 2017
dbSNP: rs61750146
rs61750146
ABCA4
4 0.878 0.071 1 94029522 missense variant A/G snp 8.2E-06 0.800 4 1999 2017
dbSNP: rs61750643
rs61750643
ABCA4
4 0.878 0.071 1 94005476 missense variant G/A snp 1.6E-05 0.800 4 1997 2017
dbSNP: rs61751399
rs61751399
ABCA4
6 0.821 0.071 1 94041367 missense variant C/T snp 2.4E-05 6.4E-05 0.800 4 1999 2017
dbSNP: rs61751403
rs61751403
ABCA4
6 0.846 0.071 1 94021339 missense variant C/T snp 3.2E-05 0.800 4 2000 2017
dbSNP: rs61752398
rs61752398
ABCA4
4 0.878 0.071 1 94062692 missense variant A/G,T snp 1.2E-05 0.800 4 1999 2017