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: 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: rs121909057
rs121909057
POU4F3
2 1.000 0.120 5 146340095 missense variant T/C snv 0.020 1.000 2 2008 2009
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: rs111706634
rs111706634
PJVK
4 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs116840819
rs116840819
GJB1
4 0.882 0.240 X 71223930 missense variant C/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1172585670
rs1172585670
ILDR1
1 3 121993482 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1176235580
rs1176235580
MTO1
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11928865
rs11928865
GRM7
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs121908072
rs121908072
TMC1
2 1.000 0.120 9 72816161 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs121908143
rs121908143
CLRN1 ; CLRN1-AS1
6 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121908930
rs121908930
COCH ; LOC100506071
3 0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121965084
rs121965084
MYO7A
2 1.000 0.120 11 77162149 missense variant A/G;T snv 1.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs1262403457
rs1262403457
NT5E
1 6 85493984 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1269396908
rs1269396908
ESRRB
1 14 76439579 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1462051345
rs1462051345
COL11A2
1 6 33177678 missense variant C/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1554958045
rs1554958045
KCNQ1
3 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017