Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111033271
CDH23
0.925 0.200 10 71793370 missense variant G/A snv 9.2E-05 9.8E-05 2
rs1342455785
LOC102723833 ; USH2A
0.925 0.200 1 216084698 missense variant C/G snv 1.6E-05 2.1E-05 2
rs1461319754
LOC102723833 ; USH2A
0.925 0.200 1 216084747 stop gained C/T snv 7.0E-06 2
rs1553299046
LOC102723833 ; USH2A
0.925 0.200 1 216078150 frameshift variant ACTGGTGAATTCA/- delins 2
rs397518021
LOC102723833 ; USH2A
0.925 0.200 1 216072958 stop gained G/A snv 8.0E-06 7.0E-06 2
rs754374132
LOC102723833 ; USH2A
0.925 0.200 1 216083476 frameshift variant C/- del 2.0E-05 7.0E-06 2
rs1553299022
LOC102723833 ; USH2A
1.000 0.200 1 216078107 frameshift variant GATAAGAGTT/- delins 1
rs397518011
LOC105372918 ; USH2A
0.925 0.200 1 216207280 stop gained G/T snv 4.0E-06 7.0E-06 3
rs397518013
LOC105372918 ; USH2A
0.882 0.200 1 216199890 frameshift variant AT/- delins 4.0E-06 3
rs746551311
LOC105372918 ; USH2A
0.882 0.200 1 216196582 stop gained G/A snv 6.0E-05 7.0E-06 3
rs886039450
LOC105372918 ; USH2A
0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05 3
rs1064793745
LOC105372918 ; USH2A
0.925 0.200 1 216199931 stop gained C/T snv 2
rs1553313308
LOC105372918 ; USH2A
0.925 0.200 1 216196610 frameshift variant -/TCATA delins 2
rs1553313505
LOC105372918 ; USH2A
0.925 0.200 1 216198313 splice donor variant A/G snv 2
rs1553313810
LOC105372918 ; USH2A
0.925 0.200 1 216199849 frameshift variant A/- delins 2
rs1553313844
LOC105372918 ; USH2A
0.925 0.200 1 216199943 frameshift variant CA/- delins 2
rs1553313909
LOC105372918 ; USH2A
0.925 0.200 1 216200122 splice acceptor variant C/T snv 2
rs1553316430
LOC105372918 ; USH2A
0.925 0.200 1 216217552 splice acceptor variant T/C snv 2
rs397518014
LOC105372918 ; USH2A
0.925 0.200 1 216199880 frameshift variant A/- del 2
rs527236135
LOC105372918 ; USH2A
1.000 0.200 1 216231963 stop gained G/A snv 1
rs527236136
LOC105372918 ; USH2A
1.000 0.200 1 216198429 frameshift variant T/- delins 1
rs547581739
LOC105372918 ; USH2A
1.000 0.200 1 216207413 missense variant G/A snv 4.0E-05 7.0E-06 1
rs1564634581
PDZD7
1.000 0.200 10 101019134 frameshift variant T/- del 1
rs587776894
PDZD7 ; SFXN3
0.925 0.200 10 101030053 frameshift variant -/G delins 6.3E-05 2
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25