Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 7
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 6
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 4
rs147346345
CDHR1
1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 1
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 8
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 3
rs104893968
GUCA1A
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 3
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 6
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 9
rs143994166
EYS
1.000 0.080 6 65402507 stop gained A/T snv 6.8E-04 6.2E-04 2
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 6
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 4
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 5
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 8
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 4
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 7
rs202193201
FAM161A
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 3
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 5
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 4
rs201186440
CERKL
2 181656814 stop gained C/A;T snv 1.3E-04 1
rs199830550
ARL2BP ; PLLP
1.000 16 57248644 splice donor variant G/A;C;T snv 1.2E-04; 4.6E-06; 4.6E-06 2
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25