Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024983534 0.882 0.080 5 1294569 missense variant C/G snv 7.0E-06 3
rs104893968 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 8
rs104894671
CRX
0.851 0.080 19 47836381 missense variant A/C snv 4
rs104894672
CRX
0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06 3
rs104894673
CRX
0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 8
rs1060503013 0.882 0.080 5 1294844 missense variant G/A;C snv 1.5E-05 3
rs1186374130 1.000 0.080 12 110209209 missense variant T/C snv 8.2E-06 1
rs12086634 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 6
rs121434631 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 6
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1234399841 0.882 0.080 2 61839728 missense variant A/C snv 4.0E-06 3
rs137853190
EYS ; PHF3
0.925 0.080 6 63720626 stop gained A/T snv 1.6E-05 2
rs1410483989 0.925 0.120 15 90433737 missense variant A/G snv 4.0E-06 7.0E-06 2
rs1415160006
EYS ; PHF3
1.000 0.080 6 63720689 missense variant A/T snv 7.0E-06 1
rs146705250
ERG
0.882 0.080 21 38403679 missense variant C/T snv 8.0E-06 4.2E-05 3
rs149672683
SP4
0.925 0.080 7 21430082 missense variant A/G snv 1.8E-02 6.5E-03 2
rs1568626209
CRX
1.000 0.080 19 47839569 frameshift variant G/- del 1
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800553 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs1800796 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs281865404 0.851 0.080 1 94014675 missense variant GG/CA mnv 4
rs281865516
CRX
1.000 0.080 19 47839678 frameshift variant C/- delins 1
rs28933695 0.851 0.080 17 8014699 missense variant G/C snv 4
rs28942109 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 3
rs373032226 0.925 0.080 14 67727062 missense variant C/T snv 9.5E-05 2.8E-05 2