Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918244
IQCB1
0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 4
rs104894459
NRL
0.882 0.080 14 24082701 missense variant A/T snv 4
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 4
rs104894927
RP2
0.882 0.080 X 46853731 stop gained C/T snv 4
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs61749451
ABCA4
0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 3
rs61750138
ABCA4
1.000 1 94030991 splice region variant C/A;T snv 1.2E-05 3
rs61750645
ABCA4
0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 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
rs121908180
BBS2
0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 3
rs202193201
FAM161A
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 3
rs121908282
HGSNAT
0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 3
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv 3
rs376764423
MYO7A
0.925 0.200 11 77208472 stop gained C/T snv 1.2E-05 2.1E-05 3
rs766096417
NR2E3
0.925 0.160 15 71811831 missense variant G/A snv 2.0E-05 7.0E-06 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
rs61751276
RPE65
0.925 0.080 1 68449890 splice region variant C/T snv 7.6E-05 1.4E-04 3
rs61752067
RS1 ; CDKL5
0.925 0.040 X 18647213 missense variant G/A snv 5.5E-06 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