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: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.710 1.000 1 2019 2019
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: rs104894402
rs104894402
GJB2
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.720 1.000 2 2000 2001
dbSNP: rs104894407
rs104894407
GJB2
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.710 1.000 1 2001 2001
dbSNP: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
dbSNP: rs104894409
rs104894409
GJB2
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs1057516342
rs1057516342
PCDH15
3 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 0
dbSNP: rs1057517966
rs1057517966
MITF
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518810
rs1057518810
SLC26A4 ; SLC26A4-AS1
1 7 107663430 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1057518840
rs1057518840
OTOF
1 2 26476319 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1057519464
rs1057519464
HEXA
7 0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519468
rs1057519468
HEXA
6 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060499791
rs1060499791
CDH23
2 1.000 0.120 10 71617295 missense variant C/T snv 0.700 0
dbSNP: rs1060501002
rs1060501002
GJB1
2 1.000 0.080 X 71223772 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs111033190
rs111033190
GJB2
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs111033196
rs111033196
GJB2
2 1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs111033220
rs111033220
SLC26A4
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.700 0