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: rs111033220
rs111033220
SLC26A4
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.800 1.000 36 1997 2017
dbSNP: rs111033241
rs111033241
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663423 frameshift variant CACGC/- delins 0.700 0
dbSNP: rs111033242
rs111033242
SLC26A4
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.700 1.000 2 2011 2015
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 2010 2010
dbSNP: rs111033244
rs111033244
SLC26A4
1 1.000 0.160 7 107690125 missense variant A/G snv 1.1E-04 1.5E-04 0.800 1.000 20 1997 2009
dbSNP: rs111033245
rs111033245
SLC26A4
1 1.000 0.160 7 107683355 splice donor variant G/T snv 0.700 0
dbSNP: rs111033254
rs111033254
SLC26A4
1 1.000 0.160 7 107698085 missense variant T/C snv 2.0E-05 2.1E-05 0.800 1.000 20 1997 2014
dbSNP: rs111033256
rs111033256
SLC26A4
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.810 1.000 25 1997 2013
dbSNP: rs111033257
rs111033257
SLC26A4
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.810 1.000 28 1997 2014
dbSNP: rs111033303
rs111033303
SLC26A4
2 0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04 0.800 1.000 25 1997 2014
dbSNP: rs111033305
rs111033305
SLC26A4
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.800 1.000 34 1997 2014
dbSNP: rs111033306
rs111033306
SLC26A4
1 1.000 0.160 7 107694419 inframe deletion TGC/- delins 2.8E-05 0.700 1.000 6 1998 2013
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.820 1.000 23 1997 2013
dbSNP: rs111033308
rs111033308
SLC26A4
2 0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05 0.700 1.000 12 1998 2015
dbSNP: rs111033309
rs111033309
SLC26A4
1 1.000 0.160 7 107702038 missense variant G/A;C snv 6.4E-05; 4.0E-06 0.800 1.000 18 1997 2009
dbSNP: rs111033311
rs111033311
SLC26A4
1 1.000 0.160 7 107694402 splice acceptor variant G/C snv 4.0E-06 0.700 1.000 4 2004 2010
dbSNP: rs111033312
rs111033312
SLC26A4
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 1.000 3 2002 2008
dbSNP: rs111033313
rs111033313
SLC26A4
4 0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04 0.700 1.000 5 1999 2012
dbSNP: rs111033316
rs111033316
SLC26A4
1 1.000 0.160 7 107696036 missense variant A/G snv 5.6E-05 6.3E-05 0.800 1.000 22 1997 2016
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.700 1.000 9 2003 2014
dbSNP: rs111033348
rs111033348
SLC26A4
3 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.810 1.000 24 1997 2016
dbSNP: rs111033405
rs111033405
OTOF
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs1205712508
rs1205712508
SLC26A4
1 1.000 0.160 7 107674311 missense variant T/C snv 1.2E-05 1.4E-05 0.700 1.000 4 2011 2016
dbSNP: rs121908360
rs121908360
SLC26A4
1 1.000 0.160 7 107702023 missense variant T/G snv 0.800 1.000 18 1997 2009