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: rs111033199
rs111033199
SLC26A4
0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 24 1997 2017
dbSNP: rs111033220
rs111033220
SLC26A4
0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 22 1997 2017
dbSNP: rs111033305
rs111033305
SLC26A4
0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 20 1997 2014
dbSNP: rs111033212
rs111033212
SLC26A4
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 15 1997 2017
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 10 1997 2014
dbSNP: rs111033318
rs111033318
SLC26A4
0.925 0.160 7 107702050 missense variant T/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 9 2003 2014
dbSNP: rs786204739
rs786204739
SLC26A4
0.925 0.160 7 107698083 missense variant T/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 8 2007 2014
dbSNP: rs763006761
rs763006761
SLC26A4
0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 7 1997 2017
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: 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: rs147952620
rs147952620
SLC26A4
0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 2010 2014
dbSNP: rs1554360358
rs1554360358
SLC26A4
0.925 0.160 7 107698076 missense variant A/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 2010 2015
dbSNP: rs28939086
rs28939086
SLC26A4
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 5 1997 2013
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: rs752807925
rs752807925
SLC26A4
0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 2011 2014
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: 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: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 4 1997 2013
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: rs121908365
rs121908365
SLC26A4
0.925 0.160 7 107672230 missense variant T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 4 1997 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: 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: 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