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: 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: 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: rs1057516354
rs1057516354
SLC26A4
1.000 0.160 7 107690212 frameshift variant A/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs1057516535
rs1057516535
SLC26A4
1.000 0.160 7 107696030 splice donor variant TCAGTTGTGAGT/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057516634
rs1057516634
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057516636
rs1057516636
SLC26A4
1.000 0.160 7 107701988 frameshift variant C/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057516658
rs1057516658
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663380 stop gained G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs1057516678
rs1057516678
SLC26A4
1.000 0.160 7 107674963 stop gained C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057516717
rs1057516717
SLC26A4
1.000 0.160 7 107695931 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057516796
rs1057516796
SLC26A4
1.000 0.160 7 107704363 frameshift variant T/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
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: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 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: rs1057517000
rs1057517000
SLC26A4
1.000 0.160 7 107690238 splice donor variant G/A;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2013 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: 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: rs1057517246
rs1057517246
SLC26A4
1.000 0.160 7 107683290 frameshift variant GGAATTAA/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057517298
rs1057517298
SLC26A4
1.000 0.160 7 107694620 splice acceptor variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
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: rs1060499807
rs1060499807
SLC26A4
1.000 0.160 7 107689200 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1060499808
rs1060499808
SLC26A4
0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
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 34 1997 2017
dbSNP: rs111033200
rs111033200
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663301 stop gained C/A;G snv 1.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014
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 21 1997 2013
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 29 1997 2017