Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 4
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 7
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 8
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 6
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 3
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
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 8
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 4
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 7
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 4
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 5
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs61751276
RPE65
0.925 0.080 1 68449890 splice region variant C/T snv 7.6E-05 1.4E-04 3
rs778234759
ABCA4
0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs137853137
CRB1
0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 4
rs121918244
IQCB1
0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 4
rs386834261
RDH12 ; GPHN ; ZFYVE26
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
rs137853907
PROM1
4 16000517 stop gained G/T snv 2.8E-05 8.4E-05 1
rs149071415
ABCA4
1 94047024 missense variant A/G snv 4.0E-05 8.4E-05 1
rs748531024
CFAP410
1.000 0.080 21 44339161 frameshift variant -/TGCACGCTGTGCAGCT ins 4.4E-05; 2.2E-05 7.7E-05 2