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: 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: rs104894334
rs104894334
AQP2 ; LOC101927318
4 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2016 2016
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: rs104895564
rs104895564
NLRP12
3 0.925 0.200 19 53810809 stop gained G/A snv 1.5E-04 4.3E-04 0.010 1.000 1 2019 2019
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: rs111033256
rs111033256
SLC26A4
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs111033299
rs111033299
GJB2
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.010 1.000 1 2003 2003
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs1176235580
rs1176235580
MTO1
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11920109
rs11920109
GRM7
1 1.000 0.120 3 7170999 intron variant T/C snv 0.35 0.010 1.000 1 2020 2020
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: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
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: rs1323852277
rs1323852277
WFS1
2 0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1391331735
rs1391331735
MYO15A ; LOC105371566
2 0.925 0.120 17 18126795 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015