Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033303
rs111033303
SLC26A4
0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 11 1997 2014
dbSNP: rs80338848
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 4 1997 2019
dbSNP: rs397516411
rs397516411
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2006 2015
dbSNP: rs111033313
rs111033313
SLC26A4
0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 1999 2012
dbSNP: rs145254330
rs145254330
SLC26A4
0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 5 1997 2017
dbSNP: rs111033244
rs111033244
SLC26A4
1.000 0.160 7 107690125 missense variant A/G snv 1.1E-04 1.5E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 4 1997 2009
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 5 1997 2013
dbSNP: rs111033308
rs111033308
SLC26A4
0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 12 1998 2015
dbSNP: rs111033316
rs111033316
SLC26A4
1.000 0.160 7 107696036 missense variant A/G snv 5.6E-05 6.3E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 5 1997 2016
dbSNP: rs397516421
rs397516421
SLC26A4
1.000 0.160 7 107701101 missense variant G/A snv 4.0E-05 5.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs111033256
rs111033256
SLC26A4
0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 8 1997 2013
dbSNP: rs542620119
rs542620119
SLC26A4
0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2010 2013
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663410 frameshift variant T/- del 4.0E-06 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 1999 2013
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 4 1997 2014
dbSNP: rs727503430
rs727503430
SLC26A4
0.925 0.160 7 107704386 splice donor variant G/A snv 1.3E-05 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2004 2014
dbSNP: rs111033306
rs111033306
SLC26A4
1.000 0.160 7 107694419 inframe deletion TGC/- delins 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 1998 2013
dbSNP: rs121908363
rs121908363
SLC26A4
0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 6 1997 2014
dbSNP: rs757820624
rs757820624
SLC26A4
0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2004 2015
dbSNP: rs747076316
rs747076316
SLC26A4
0.925 0.160 7 107694622 stop gained C/A;G;T snv 2.0E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 2005 2011
dbSNP: rs768471577
rs768471577
SLC26A4
0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 7 2000 2015
dbSNP: rs111033254
rs111033254
SLC26A4
1.000 0.160 7 107698085 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 8 1997 2014
dbSNP: rs1057516634
rs1057516634
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs918684449
rs918684449
SLC26A4
1.000 0.160 7 107675077 frameshift variant A/- delins 1.2E-05 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs111033257
rs111033257
SLC26A4
0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 15 1997 2014
dbSNP: rs1205712508
rs1205712508
SLC26A4
1.000 0.160 7 107674311 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2011 2016