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: rs777333979
rs777333979
SLC26A4
1.000 0.160 7 107690134 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2007 2014
dbSNP: rs786204581
rs786204581
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663366 stop gained C/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2009 2014
dbSNP: rs80338849
rs80338849
SLC26A4
0.925 0.160 7 107683538 splice donor variant G/A;T snv 2.0E-04; 1.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 1998 2015
dbSNP: rs1057516243
rs1057516243
SLC26A4
1.000 0.160 7 107698092 missense variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2013 2014
dbSNP: rs1057516881
rs1057516881
SLC26A4
1.000 0.160 7 107674350 splice donor variant T/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2012 2014
dbSNP: rs1057517161
rs1057517161
SLC26A4
1.000 0.160 7 107701972 missense variant T/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2013 2014
dbSNP: rs1057517303
rs1057517303
SLC26A4
0.925 0.160 7 107710192 stop gained T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2012 2015
dbSNP: rs111033309
rs111033309
SLC26A4
1.000 0.160 7 107702038 missense variant G/A;C snv 6.4E-05; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 3 1997 2009
dbSNP: rs111033312
rs111033312
SLC26A4
0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2002 2008
dbSNP: rs1345175795
rs1345175795
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663358 missense variant C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2007 2016
dbSNP: rs142656144
rs142656144
SLC26A4
1.000 0.160 7 107710082 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2014 2016
dbSNP: rs1554359670
rs1554359670
SLC26A4
0.925 0.160 7 107694650 missense variant C/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2003 2014
dbSNP: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663294 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2002 2005
dbSNP: rs786204601
rs786204601
SLC26A4
0.925 0.160 7 107696014 frameshift variant T/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2011 2013
dbSNP: rs111033242
rs111033242
SLC26A4
0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2011 2015
dbSNP: rs1554354787
rs1554354787
SLC26A4
0.925 0.160 7 107674188 missense variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2006 2010
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661807 splice donor variant T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2016 2017
dbSNP: rs786204502
rs786204502
SLC26A4
1.000 0.160 7 107701942 stop gained G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2012 2014
dbSNP: rs786204504
rs786204504
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661805 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2012 2013
dbSNP: rs786204600
rs786204600
SLC26A4
1.000 0.160 7 107683324 frameshift variant C/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs786204730
rs786204730
SLC26A4
1.000 0.160 7 107672192 frameshift variant -/T delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs1057516354
rs1057516354
SLC26A4
1.000 0.160 7 107690212 frameshift variant A/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs1057516658
rs1057516658
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663380 stop gained G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs1057517000
rs1057517000
SLC26A4
1.000 0.160 7 107690238 splice donor variant G/A;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2013 2013