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: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.710 1.000 2 2010 2015
dbSNP: rs121908362
rs121908362
SLC26A4
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.820 1.000 23 1997 2014
dbSNP: rs121908363
rs121908363
SLC26A4
4 0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05 0.810 1.000 23 1997 2014
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121908365
rs121908365
SLC26A4
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.800 1.000 20 1997 2016
dbSNP: rs121909341
rs121909341
FOXI1
2 0.925 0.160 5 170108274 missense variant G/A;C snv 6.8E-05 0.700 0
dbSNP: rs1219724284
rs1219724284
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663435 missense variant G/C snv 4.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs1241745103
rs1241745103
SLC26A4
3 0.925 0.160 7 107701139 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs1275009555
rs1275009555
SLC26A4
1 1.000 0.160 7 107672182 frameshift variant C/- del 7.0E-06 0.700 1.000 3 2007 2015
dbSNP: rs1293971731
rs1293971731
SLC26A4
1 1.000 0.160 7 107690205 missense variant G/C;T snv 8.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs1298217152
rs1298217152
SLC26A4
1 1.000 0.160 7 107710138 frameshift variant -/TA delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1345175795
rs1345175795
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663358 missense variant C/T snv 4.0E-06 0.700 1.000 3 2007 2016
dbSNP: rs1374999656
rs1374999656
SLC26A4
1 1.000 0.160 7 107689197 frameshift variant C/- delins 7.0E-06 0.700 1.000 2 1998 2006
dbSNP: rs1413121429
rs1413121429
SLC26A4
1 1.000 0.160 7 107694619 splice acceptor variant A/C snv 7.0E-06 0.700 0
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: 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: rs1442599990
rs1442599990
SLC26A4
1 1.000 0.160 7 107672147 missense variant A/G snv 7.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs145254330
rs145254330
SLC26A4
2 0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 22 1997 2017
dbSNP: rs1455597424
rs1455597424
SLC26A4
1 1.000 0.160 7 107710053 splice acceptor variant G/A snv 8.0E-06 0.700 0
dbSNP: rs146281367
rs146281367
SLC26A4
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2006 2014
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 1.000 5 2010 2014
dbSNP: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663390 missense variant G/T snv 0.700 1.000 4 2009 2017
dbSNP: rs1554354382
rs1554354382
SLC26A4
1 1.000 0.160 7 107672242 missense variant T/C snv 0.700 1.000 18 1997 2009
dbSNP: rs1554354787
rs1554354787
SLC26A4
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 2 2006 2010
dbSNP: rs1554354801
rs1554354801
SLC26A4
1 1.000 0.160 7 107674202 frameshift variant G/- del 0.700 1.000 1 2015 2015