Disease: Deafness, Autosomal Recessive 1b
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
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
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 14
rs104894408
GJB2
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 13
rs104894415
GJB6
0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 11
rs76434661
GJB2
0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 11
rs80338940
GJB2
0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 11
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04 10
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 10
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 9
rs35887622
GJB2
0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 8
rs80338943
GJB2
0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04 6
rs111033253
GJB2
0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 4
rs104894397
GJB2
0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 3
rs111033204
GJB2
0.925 0.120 13 20189282 frameshift variant AT/- del 6.4E-05 2.8E-05 3