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: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107661807 splice donor variant T/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs918684449
rs918684449
SLC26A4
1 1.000 0.160 7 107675077 frameshift variant A/- delins 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1554354801
rs1554354801
SLC26A4
1 1.000 0.160 7 107674202 frameshift variant G/- del 0.700 1.000 1 2015 2015
dbSNP: rs142656144
rs142656144
SLC26A4
1 1.000 0.160 7 107710082 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 3 2014 2016
dbSNP: rs1057516658
rs1057516658
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663380 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs111033200
rs111033200
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663301 stop gained C/A;G snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs727505088
rs727505088
SLC26A4
1 1.000 0.160 7 107696017 missense variant A/G snv 0.700 1.000 5 2013 2017
dbSNP: rs1057516243
rs1057516243
SLC26A4
1 1.000 0.160 7 107698092 missense variant G/T snv 0.700 1.000 3 2013 2014
dbSNP: rs1057517161
rs1057517161
SLC26A4
1 1.000 0.160 7 107701972 missense variant T/A snv 0.700 1.000 3 2013 2014
dbSNP: rs912147281
rs912147281
SLC26A4
3 0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 2 2013 2013
dbSNP: rs1057517000
rs1057517000
SLC26A4
1 1.000 0.160 7 107690238 splice donor variant G/A;T snv 0.700 1.000 1 2013 2013
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: rs1554359693
rs1554359693
SLC26A4
1 1.000 0.160 7 107694694 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1554361584
rs1554361584
SLC26A4
1 1.000 0.160 7 107704340 stop gained G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs192366176
rs192366176
SLC26A4
4 0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1057516881
rs1057516881
SLC26A4
1 1.000 0.160 7 107674350 splice donor variant T/A snv 0.700 1.000 3 2012 2014
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 1.000 3 2012 2015
dbSNP: rs786204502
rs786204502
SLC26A4
1 1.000 0.160 7 107701942 stop gained G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs786204504
rs786204504
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107661805 splice donor variant G/- delins 0.700 1.000 2 2012 2013
dbSNP: rs368119540
rs368119540
SLC26A4
1 1.000 0.160 7 107701943 stop gained G/A;C;T snv 1.2E-05; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs778901860
rs778901860
SLC26A4
1 1.000 0.160 7 107701161 stop gained A/T snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs142498437
rs142498437
SLC26A4
1 1.000 0.160 7 107690212 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 6 2011 2015
dbSNP: rs752807925
rs752807925
SLC26A4
3 0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05 0.700 1.000 5 2011 2014
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