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: rs80338848
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 4 1997 2019
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: 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: 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: 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
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: 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: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661807 splice donor variant T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2016 2017
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: 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: 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: 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: 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: 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: rs918684449
rs918684449
SLC26A4
1.000 0.160 7 107675077 frameshift variant A/- delins 1.2E-05 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2016 2016
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: rs397516413
rs397516413
SLC26A4
0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 12 1997 2015
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: 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: 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: 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: 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