Source: BEFREE ×
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 22
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 13
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 7
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 7
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 7
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 5
rs104893968
GUCA1A
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 5
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 4
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 4
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 4
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv 4
rs61750173
GUCY2D
0.827 0.080 17 8014701 missense variant G/A snv 3
rs104894459
NRL
0.882 0.080 14 24082701 missense variant A/T snv 3
rs61752871
RPE65
0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 3
rs61749409
ABCA4
0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 2
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 2
rs147346345
CDHR1
1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 2
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 2
rs104894927
RP2
0.882 0.080 X 46853731 stop gained C/T snv 2
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 1
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 1
rs61751402
ABCA4
0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 1
rs1052954321
ALPK1
0.882 4 112427580 missense variant C/T snv 1
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 1