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: 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 22 1997 2016
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 20 1997 2009
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 20 1997 2014
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 18 1997 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 18 1997 2009
dbSNP: rs1219724284
rs1219724284
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663435 missense variant G/C snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 18 1997 2009
dbSNP: rs1293971731
rs1293971731
SLC26A4
1.000 0.160 7 107690205 missense variant G/C;T snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 18 1997 2009
dbSNP: rs1442599990
rs1442599990
SLC26A4
1.000 0.160 7 107672147 missense variant A/G snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 18 1997 2009
dbSNP: rs1554354382
rs1554354382
SLC26A4
1.000 0.160 7 107672242 missense variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 18 1997 2009
dbSNP: rs1554361015
rs1554361015
SLC26A4
1.000 0.160 7 107701981 missense variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 18 1997 2009
dbSNP: rs786204450
rs786204450
SLC26A4
1.000 0.160 7 107698042 frameshift variant -/C delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 7 2003 2013
dbSNP: rs1057517042
rs1057517042
SLC26A4
1.000 0.160 7 107690147 missense variant C/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2006 2016
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: rs142498437
rs142498437
SLC26A4
1.000 0.160 7 107690212 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2011 2015
dbSNP: rs777008062
rs777008062
SLC26A4
1.000 0.160 7 107690152 inframe deletion TCT/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2001 2015
dbSNP: rs727505088
rs727505088
SLC26A4
1.000 0.160 7 107696017 missense variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 2013 2017
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: 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: 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