Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs61755792
PRPH2
0.763 0.160 6 42721821 missense variant G/A;C snv 10
rs104893620
CNGA3
0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 6
rs1057518767
ABCA4
0.851 0.120 1 94098874 missense variant A/T snv 5
rs398123339
ABCA4
0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 5
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 5
rs111033578
MFRP ; C1QTNF5
0.827 0.200 11 119339574 missense variant G/C snv 5
rs61755787
PRPH2
0.882 0.120 6 42721866 missense variant C/T snv 5
rs148957473
VSX1
0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 5
rs61751406
ABCA4
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05 4
rs1463729 0.925 0.120 9 124119169 intergenic variant C/A;T snv 3
rs1867315
RASGRF1 ; LOC100129540
0.882 0.120 15 78977393 intron variant C/G;T snv 3