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: rs1801269
rs1801269
ABCA4
4 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.800 0
dbSNP: rs28938473
rs28938473
ABCA4
4 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.700 1.000 2 1997 2009
dbSNP: rs61750202
rs61750202
ABCA4
2 0.925 0.040 1 94055245 missense variant C/G;T snv 2.1E-04 0.700 1.000 2 1997 2009
dbSNP: rs61750639
rs61750639
ABCA4
3 0.882 0.080 1 94007710 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 2 1997 2009
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: rs1800548
rs1800548
ABCA4
2 0.925 0.040 1 94077833 missense variant C/T snv 8.3E-04 8.9E-04 0.700 0
dbSNP: rs1800549
rs1800549
ABCA4
2 0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03 0.700 0
dbSNP: rs1800550
rs1800550
ABCA4
1 1.000 0.040 1 94025039 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1800551
rs1800551
ABCA4
1 1.000 0.040 1 94021887 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1800552
rs1800552
ABCA4
4 0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03 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 0
dbSNP: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 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: 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: rs61750130
rs61750130
ABCA4
7 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: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-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: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 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: rs61751389
rs61751389
ABCA4
4 0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06 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: rs61753038
rs61753038
ABCA4
4 0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0