Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 9
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 8
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 8
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 7
rs199679165
USH2A
0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 6
rs876657731
USH2A ; LOC102723833
0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 6
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 5
rs727504301
PCDH15
0.851 0.200 10 54090054 stop gained G/A;C snv 5
rs1554919471
KCNQ1
0.925 0.200 11 2768861 frameshift variant G/- delins 4
rs201866631
USH1G
0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 4
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv 3
rs780170125
LOC105371566 ; MYO15A
0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04 2
rs1057518826
USH2A
0.925 0.200 1 215993103 missense variant G/A;T snv 4.0E-06 2
rs571007078
ILDR1
1.000 0.120 3 121994215 frameshift variant A/- delins 1.0E-04 1
rs768257384
MYO15A ; LOC105371567
1.000 0.120 17 18157059 stop gained C/T snv 1.2E-05 1