Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
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
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-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
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
rs386834261
RDH12 ; GPHN ; ZFYVE26
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
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
rs1556318633
RP2
0.925 0.080 X 46853725 missense variant C/T snv 3
rs764759172
ABCA4
0.925 0.040 1 94080692 frameshift variant G/- del 3
rs778234759
ABCA4
0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv 3
rs878853410
USH2A
0.925 0.200 1 216321969 frameshift variant A/- del 3
rs1553186896
ABCA4
1.000 1 94005490 missense variant A/C;G snv 2
rs1553192726
ABCA4
1.000 0.080 1 94063315 stop gained G/T snv 2
rs1553193813
ABCA4
1.000 0.080 1 94077747 stop gained C/T snv 2