Disease: Sensorineural Hearing Loss (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 18
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 12
rs111033299
GJB2
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 10
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 10
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 9
rs1566304640
EDNRB-AS1 ; EDNRB
0.827 0.280 13 77900593 missense variant G/A snv 8
rs35887622
GJB2
0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 8
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 8
rs104894409
GJB2
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 6
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 6
rs587781262
PRPS1
0.882 0.240 X 107640938 missense variant A/G snv 6
rs80338828
MYH9
0.851 0.200 22 36305975 missense variant C/T snv 6
rs587781263
PRPS1
0.925 0.240 X 107650000 missense variant G/T snv 5
rs1559320299
PAX3 ; CCDC140
0.925 0.160 2 222297043 missense variant T/A snv 4
rs1176235580
MTO1
0.925 0.120 6 73482214 missense variant G/A snv 3
rs121908930
COCH ; LOC100506071
0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 3
rs139449947
MTO1
0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-05 3
rs111033196
GJB2
1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02 2
rs11928865
GRM7
1.000 0.120 3 7114015 intron variant T/A;G snv 2