Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs746174328
PROM1
1.000 0.080 4 16009072 frameshift variant AT/- delins 2
rs750151209
CERKL
2 181548785 frameshift variant AT/- del 1.2E-05 1
rs765129639
RP1
8 54625380 frameshift variant AT/- del 1.6E-05 2.1E-05 1
rs878853349
EYS
6 64902132 frameshift variant AT/- del 7.0E-06 1
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs61751389
ABCA4
0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06 4
rs746559651
DRAM2
1.000 0.040 1 111126286 frameshift variant C/- delins 1.2E-05 7.1E-06 2
rs869312184
ABCA4
1 94048898 frameshift variant C/- delins 1
rs878853414
USH2A
1 216000418 frameshift variant C/- del 1
rs749009747
COL18A1 ; SLC19A1
1.000 0.160 21 45497645 frameshift variant C/-;CC delins 2
rs760430056
CNGB1
16 57904824 frameshift variant C/-;CC delins 1
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 10
rs1563329888
RP1
1.000 0.080 8 54625333 stop gained C/A snv 2
rs876657718
PDE6B
1.000 0.080 4 625917 stop gained C/A snv 9.0E-06 2
rs878853378
MYO7A
1.000 0.200 11 77174796 stop gained C/A snv 4.1E-06 2
rs1569235803
RPGR
X 38286052 stop gained C/A snv 1
rs878853357
IMPG2
3 101228876 stop gained C/A snv 1.6E-05 1.4E-05 1
rs869312186
USH2A
1 216190298 stop gained C/A;G snv 4.0E-06 1
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 9
rs111733491
LRP2
2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 1
rs567435284
CFAP410
21 44333137 missense variant C/A;G;T snv 4.1E-06; 5.4E-05 1
rs61750138
ABCA4
1.000 1 94030991 splice region variant C/A;T snv 1.2E-05 3
rs377257254
NR2E3
1.000 0.160 15 71813408 missense variant C/A;T snv 3.7E-05; 2.1E-05 2