Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 11
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 9
rs104893968
GUCA1A
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 8
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv 8
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 7
rs1052954321
ALPK1
0.882 4 112427580 missense variant C/T snv 6
rs61750173
GUCY2D
0.827 0.080 17 8014701 missense variant G/A snv 6
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv 6
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 6
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 6
rs104894459
NRL
0.882 0.080 14 24082701 missense variant A/T snv 4
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
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs61751404
ABCA4
0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 4
rs747835249
CEP290
0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 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
rs1556318633
RP2
0.925 0.080 X 46853725 missense variant C/T snv 3
rs202193201
FAM161A
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 3
rs61749451
ABCA4
0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 3