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: 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: rs397516424
rs397516424
SLC26A4
1.000 0.160 7 107701986 missense variant A/G snv 2.8E-05 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs431905486
rs431905486
SLC26A4
0.925 0.160 7 107683531 frameshift variant -/A delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs542079779
rs542079779
SLC26A4
1.000 0.160 7 107712623 splice donor variant G/A snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs727503431
rs727503431
SLC26A4
1.000 0.160 7 107710179 stop gained C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs756076960
rs756076960
SLC26A4
1.000 0.160 7 107675107 splice donor variant TGTA/- delins 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs876657722
rs876657722
SLC26A4
1.000 0.160 7 107696040 splice donor variant G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs397516430
rs397516430
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661709 stop gained C/A;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2004 2004
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: rs1374999656
rs1374999656
SLC26A4
1.000 0.160 7 107689197 frameshift variant C/- delins 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 1998 2006
dbSNP: rs768245266
rs768245266
SLC26A4
1.000 0.160 7 107683351 frameshift variant -/G delins 1.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2007 2007
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: 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: rs786204426
rs786204426
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661644 start lost G/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2008 2008
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: 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: rs746238617
rs746238617
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663437 splice donor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs121908360
rs121908360
SLC26A4
1.000 0.160 7 107702023 missense variant T/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 0 1997 2009
dbSNP: rs111033311
rs111033311
SLC26A4
1.000 0.160 7 107694402 splice acceptor variant G/C snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2004 2010
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 4 2003 2010
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: 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: 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: rs368119540
rs368119540
SLC26A4
1.000 0.160 7 107701943 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs778901860
rs778901860
SLC26A4
1.000 0.160 7 107701161 stop gained A/T snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2012 2012