Source: ALL

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: rs786204523
rs786204523
SLC26A4
1.000 0.160 7 107710089 frameshift variant T/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 1998 2014
dbSNP: rs1045933779
rs1045933779
SLC26A4
1.000 0.160 7 107710150 missense variant T/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2010 2015
dbSNP: rs1057516988
rs1057516988
SLC26A4
1.000 0.160 7 107674163 splice acceptor variant G/A snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2007 2015
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: 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
dbSNP: rs146281367
rs146281367
SLC26A4
0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2006 2014
dbSNP: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663390 missense variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2009 2017
dbSNP: rs376653349
rs376653349
SLC26A4
1.000 0.160 7 107694481 splice donor variant G/C snv 1.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2006 2014
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: 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: 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: 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: 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: 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: rs1275009555
rs1275009555
SLC26A4
1.000 0.160 7 107672182 frameshift variant C/- del 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2007 2015
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: 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: 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