Gene: SLC26A4 ×
Source: CLINVAR ×
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: rs111033212
rs111033212
SLC26A4
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.800 1.000 15 1997 2017
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
1 0.851 0.160 7 107661725 missense variant C/A;G snv 0.800 1.000 10 1997 2014
dbSNP: rs111033307
rs111033307
SLC26A4
2 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.820 1.000 5 1997 2013
dbSNP: rs80338848
rs80338848
SLC26A4
4 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.810 1.000 4 1997 2019
dbSNP: rs111033199
rs111033199
SLC26A4
2 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.810 1.000 24 1997 2017
dbSNP: rs111033256
rs111033256
SLC26A4
2 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.810 1.000 8 1997 2013
dbSNP: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
4 0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06 0.800 1.000 4 1997 2013
dbSNP: rs121908362
rs121908362
SLC26A4
4 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.820 1.000 4 1997 2014
dbSNP: rs121908361
rs121908361
SLC26A4
2 0.882 0.160 7 107689156 stop gained A/G;T snv 0.710 1.000 1 2010 2015
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 22 1997 2017
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 20 1997 2014
dbSNP: rs111033257
rs111033257
SLC26A4
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.810 1.000 15 1997 2014
dbSNP: rs200455203
rs200455203
SLC26A4
4 0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05 0.700 1.000 14 2007 2014
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: rs397516413
rs397516413
SLC26A4
2 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 12 1997 2015
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 11 1997 2014
dbSNP: rs786204474
rs786204474
SLC26A4
3 0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06 0.700 1.000 10 2007 2014
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 8 1997 2016
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 8 2007 2014
dbSNP: rs763006761
rs763006761
SLC26A4
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.800 1.000 7 1997 2017
dbSNP: rs768471577
rs768471577
SLC26A4
1 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 0.710 1.000 7 2000 2015
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 6 1997 2014
dbSNP: rs757820624
rs757820624
SLC26A4
2 0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05 0.700 1.000 6 2004 2015
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