Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs549625604 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs543698823 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 4
rs1449723475
RP1
1.000 0.080 8 54626489 frameshift variant -/A delins 1
rs1554519554
RP1
1.000 0.080 8 54626087 frameshift variant -/A delins 1
rs527236082 1.000 0.080 6 10813661 frameshift variant -/C delins 1.2E-05; 4.0E-06 1
rs756806434 1.000 0.080 16 57897496 frameshift variant -/CACC delins 3.5E-05 1
rs527236073
EYS
1.000 0.080 6 64591464 frameshift variant -/CCTCTTGA delins 1
rs773278338 1.000 0.080 6 135428682 stop gained -/CT ins 8.2E-06 1
rs397515359 0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04 5
rs1554125752 0.925 0.080 6 35506146 frameshift variant -/G delins 2
rs1360937549 1.000 0.080 4 660481 frameshift variant -/G delins 7.0E-06 1
rs527236056 1.000 0.080 2 29071273 frameshift variant -/G delins 1
rs397518043 0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05 4
rs1555793207 1.000 0.080 19 54124637 frameshift variant -/GTGC delins 1
rs727503731 0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05 4
rs1555965653 1.000 0.080 X 38304654 frameshift variant -/T delins 1
rs281865188 1.000 0.080 12 88077281 frameshift variant -/T delins 7.0E-06 1
rs527236061 1.000 0.080 16 57904843 frameshift variant -/T delins 1
rs527236065
EYS
1.000 0.080 6 64590909 frameshift variant -/T delins 6.6E-06 1
rs863223342 1.000 0.080 1 197421284 frameshift variant -/T delins 1
rs527236109 1.000 0.080 X 38299113 frameshift variant -/TACC delins 1
rs527236121 1.000 0.080 1 216292292 frameshift variant -/TC ins 4.0E-06 1
rs527236070
PHF3 ; EYS
1.000 0.080 6 63721651 frameshift variant -/TGCA delins 1
rs748531024 1.000 0.080 21 44339161 frameshift variant -/TGCACGCTGTGCAGCT ins 4.4E-05; 2.2E-05 7.7E-05 2
rs754995805 1.000 0.080 3 101232983 splice region variant -/TTCATCACCTAAAA delins 1.6E-05 4.2E-05 1