Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052030
MYO7A
0.925 0.200 11 77142737 stop gained T/A;C snv 0.39 2
rs1057517774
MYO7A
0.925 0.200 11 77162845 splice region variant C/G snv 7.0E-06 2
rs1057517857
MYO7A
0.882 0.200 11 77190113 stop gained C/T snv 3
rs1057519383
ADGRV1
1.000 0.200 5 90790948 missense variant G/A;T snv 4.0E-06 1
rs1060499716
MYO7A
1.000 0.200 11 77157397 splice region variant G/A snv 9.3E-06 1
rs1060499800
MYO7A
0.925 0.200 11 77179069 frameshift variant C/- del 2
rs1060499801
MYO7A
0.925 0.200 11 77211296 stop gained C/T snv 2
rs111033174
MYO7A
0.925 0.200 11 77156683 missense variant C/T snv 2.8E-05; 2.4E-05 1.4E-05 2
rs111033178
MYO7A
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 6
rs111033180
MYO7A
0.882 0.200 11 77172850 stop gained C/A;T snv 1.4E-05 3
rs111033181
MYO7A
0.925 0.200 11 77156022 missense variant T/A;C snv 2.8E-05 2
rs111033182
MYO7A
0.925 0.200 11 77202357 stop gained C/T snv 7.0E-06 2
rs111033187
MYO7A
0.925 0.200 11 77156012 frameshift variant C/-;CC delins 2
rs111033192
MYO7A
1.000 0.200 11 77207370 stop gained G/A;T snv 4.1E-06; 1.2E-05 1
rs111033198
MYO7A
0.925 0.200 11 77211170 stop gained C/T snv 7.0E-06 2
rs111033201
MYO7A
0.851 0.200 11 77174825 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.6E-05 4
rs111033206
MYO7A
0.925 0.200 11 77162854 missense variant G/A snv 1.2E-05 2
rs111033214
MYO7A
0.882 0.200 11 77189348 missense variant G/A snv 2.0E-05 4.2E-05 3
rs111033215
MYO7A
0.925 0.200 11 77206108 missense variant G/A snv 3.3E-05 4.2E-05 2
rs111033233
MYO7A
1.000 0.200 11 77181589 missense variant G/A;T snv 4.0E-06; 8.1E-06 1
rs111033260
PCDH15
0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 7
rs111033267
CLRN1 ; CLRN1-AS1
0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 5
rs111033283
MYO7A
0.882 0.200 11 77156909 missense variant G/A snv 8.0E-06 7.0E-06 3
rs111033286
MYO7A
1.000 0.200 11 77162146 missense variant C/T snv 1
rs111033287
MYO7A
1.000 0.200 11 77203118 missense variant C/A;G;T snv 2.8E-04; 6.5E-06; 1.9E-03; 1.3E-05 1