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: rs111033243
rs111033243
SLC26A4
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs148388884
rs148388884
GJB3 ; SMIM12 ; LOC105378642
1 1.000 0.200 1 34784871 missense variant G/A;C;T snv 9.1E-04; 4.4E-05; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17215500
rs17215500
KCNQ1
7 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.010 1.000 1 2000 2000
dbSNP: rs2274083
rs2274083
GJB2
3 0.925 0.200 13 20189241 missense variant T/C snv 1.5E-02 5.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2016 2016
dbSNP: rs74315289
rs74315289
BSND
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs753756017
rs753756017
CDH23
2 0.925 0.240 10 71812296 intron variant G/A snv 1.5E-04 5.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs759552778
rs759552778
SMPX
1 1.000 0.200 X 21743827 missense variant T/C snv 1.8E-04 5.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs760352870
rs760352870
SLC26A4
1 1.000 0.200 7 107701196 splice region variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013