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: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 0.900 10 2004 2017
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.740 0.833 6 2001 2012
dbSNP: rs2274083
rs2274083
GJB2
3 0.925 0.200 13 20189241 missense variant T/C snv 1.5E-02 5.1E-03 0.030 1.000 3 2009 2015
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.730 0.667 3 2010 2017
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs121909057
rs121909057
POU4F3
2 1.000 0.120 5 146340095 missense variant T/C snv 0.020 1.000 2 2008 2009
dbSNP: rs181949335
rs181949335
TMPRSS3
3 0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04 0.020 1.000 2 2007 2017
dbSNP: rs2274084
rs2274084
GJB2
6 0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 0.020 0.500 2 2005 2009
dbSNP: rs28931593
rs28931593
GJB2
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2002 2014
dbSNP: rs457717
rs457717
F2RL2 ; IQGAP2
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs74315319
rs74315319
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05 0.020 1.000 2 2005 2017
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.020 1.000 2 2015 2018
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.720 1.000 2 2005 2007
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.720 1.000 2 2005 2019
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: 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: 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: rs1060501002
rs1060501002
GJB1
2 1.000 0.080 X 71223772 missense variant G/A snv 0.010 1.000 1 2001 2001
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: rs111033242
rs111033242
SLC26A4
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs111033267
rs111033267
CLRN1 ; CLRN1-AS1
5 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs111033293
rs111033293
GJB2
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009