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 0.050 1.000 5 2002 2013
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 0.750 4 2000 2012
dbSNP: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.020 1.000 2 2004 2019
dbSNP: rs10258719
rs10258719
ATP6V0A4
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs104894404
rs104894404
GJB2
4 0.882 0.200 13 20189406 missense variant C/G;T snv 0.010 1.000 1 2018 2018
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 0.010 1.000 1 2003 2003
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs11096955
rs11096955
TLR10
5 0.851 0.200 4 38774486 missense variant T/C;G snv 4.3E-06; 0.41 0.010 1.000 1 2013 2013
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 2003 2003
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
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 2020 2020
dbSNP: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.010 1.000 1 2015 2015
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 2011 2011
dbSNP: rs121909063
rs121909063
TECTA
2 0.925 0.120 11 121168135 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1233562246
rs1233562246
OTOGL
2 0.925 0.120 12 80255055 frameshift variant T/- del 0.010 1.000 1 2012 2012
dbSNP: rs1250745641
rs1250745641
CDH23
1 1.000 0.120 10 71807866 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1291519904
rs1291519904
GJB2
2 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1322366495
rs1322366495
PTPRQ ; LOC105369867
1 1.000 0.120 12 80649626 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs142668478
rs142668478
WFS1
2 0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs151344629
rs151344629
NLRP3
4 0.851 0.200 1 247424492 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018