Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 8
rs778234759
ABCA4
0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs1555955061
CHM
X 85965588 intron variant T/C snv 2
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 9
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 7
rs61751383
ABCA4
0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05 6
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 5
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 5
rs104894927
RP2
0.882 0.080 X 46853731 stop gained C/T snv 4
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs121918244
IQCB1
0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 4
rs137853137
CRB1
0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 4
rs121908180
BBS2
0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 3
rs137853005
PROM1
0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 3
rs202193201
FAM161A
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 3
rs376764423
MYO7A
0.925 0.200 11 77208472 stop gained C/T snv 1.2E-05 2.1E-05 3
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv 3
rs143994166
EYS
1.000 0.080 6 65402507 stop gained A/T snv 6.8E-04 6.2E-04 2
rs1553192726
ABCA4
1.000 0.080 1 94063315 stop gained G/T snv 2