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: rs111033257
rs111033257
SLC26A4
0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 15 1997 2014
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 14 2007 2014
dbSNP: rs111033308
rs111033308
SLC26A4
0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 12 1998 2015
dbSNP: rs111033303
rs111033303
SLC26A4
0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 11 1997 2014
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: rs786204474
rs786204474
SLC26A4
0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 10 2007 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: 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 8 1997 2014
dbSNP: rs111033256
rs111033256
SLC26A4
0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 8 1997 2013
dbSNP: rs111033348
rs111033348
SLC26A4
0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 8 1997 2016
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: rs768471577
rs768471577
SLC26A4
0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 7 2000 2015
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: rs121908363
rs121908363
SLC26A4
0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 6 1997 2014
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: rs757820624
rs757820624
SLC26A4
0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2004 2015
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 5 1997 2013
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: 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 5 1997 2016
dbSNP: rs145254330
rs145254330
SLC26A4
0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 5 1997 2017