Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569280138
rs1569280138
POU3F4 ; LOC107985635
1 1.000 0.160 X 83508570 frameshift variant -/C delins 0.700 0
dbSNP: rs398122516
rs398122516
POU3F4
1 1.000 0.160 X 83509272 frameshift variant -/T delins 0.700 0
dbSNP: rs267606974
rs267606974
POU3F4
1 1.000 0.160 X 83509219 frameshift variant A/- delins 0.700 0
dbSNP: rs398122517
rs398122517
POU3F4
1 1.000 0.160 X 83509381 frameshift variant A/- delins 0.700 0
dbSNP: rs104894922
rs104894922
POU3F4
1 1.000 0.160 X 83509324 missense variant A/G snv 0.800 1.000 5 1995 2014
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs104894923
rs104894923
POU3F4
1 1.000 0.160 X 83509314 missense variant A/T snv 0.800 1.000 5 1995 2014
dbSNP: rs104894920
rs104894920
POU3F4
1 1.000 0.160 X 83508928 stop gained A/T snv 0.700 0
dbSNP: rs730882189
rs730882189
POU3F4
1 1.000 0.160 X 83509183 frameshift variant AGTG/- delins 0.700 0
dbSNP: rs397516336
rs397516336
POU3F4
1 1.000 0.160 X 83509177 frameshift variant AT/- del 0.700 1.000 1 2013 2013
dbSNP: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
dbSNP: rs104894398
rs104894398
GJB2
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
dbSNP: rs104894924
rs104894924
POU3F4
1 1.000 0.160 X 83509291 missense variant C/G;T snv 0.800 1.000 5 1995 2014
dbSNP: rs104894413
rs104894413
GJB2
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
dbSNP: rs104894415
rs104894415
GJB6
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs780027419
rs780027419
POU3F4
2 1.000 0.160 X 83509201 missense variant C/G;T snv 5.5E-06 0.700 0
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
dbSNP: rs387906502
rs387906502
POU3F4
1 1.000 0.160 X 83509259 missense variant C/T snv 0.800 1.000 5 1995 2014
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs111033299
rs111033299
GJB2
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
dbSNP: rs76434661
rs76434661
GJB2
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 0
dbSNP: rs774518779
rs774518779
GJB2
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs80338940
rs80338940
GJB2
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 0.700 0
dbSNP: rs80338944
rs80338944
GJB2
9 0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 0.700 0