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: rs397516421
rs397516421
SLC26A4
1.000 0.160 7 107701101 missense variant G/A snv 4.0E-05 5.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs397516424
rs397516424
SLC26A4
1.000 0.160 7 107701986 missense variant A/G snv 2.8E-05 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs431905486
rs431905486
SLC26A4
0.925 0.160 7 107683531 frameshift variant -/A delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs542079779
rs542079779
SLC26A4
1.000 0.160 7 107712623 splice donor variant G/A snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs727503431
rs727503431
SLC26A4
1.000 0.160 7 107710179 stop gained C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs756076960
rs756076960
SLC26A4
1.000 0.160 7 107675107 splice donor variant TGTA/- delins 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs876657722
rs876657722
SLC26A4
1.000 0.160 7 107696040 splice donor variant G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
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 36 1997 2017
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: 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 34 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 29 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 28 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 27 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 25 1997 2013
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 25 1997 2014
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 24 1997 2016
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 23 1997 2013
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 23 1997 2014
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 23 1997 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 23 1997 2017
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: 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 22 1997 2017
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: 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 21 1997 2013
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 21 1997 2019