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: rs111033220
rs111033220
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
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
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
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
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: rs111033256
rs111033256
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
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
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
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
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
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
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
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
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: rs28939086
rs28939086
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
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
dbSNP: rs111033244
rs111033244
1.000 0.160 7 107690125 missense variant A/G snv 1.1E-04 1.5E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 1.000 20 1997 2009
dbSNP: rs111033254
rs111033254
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 20 1997 2014
dbSNP: rs121908365
rs121908365
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 20 1997 2016
dbSNP: rs111033309
rs111033309
1.000 0.160 7 107702038 missense variant G/A;C snv 6.4E-05; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 1.000 18 1997 2009
dbSNP: rs121908360
rs121908360
1.000 0.160 7 107702023 missense variant T/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 1.000 18 1997 2009
dbSNP: rs1293971731
rs1293971731
1.000 0.160 7 107690205 missense variant G/C;T snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 18 1997 2009
dbSNP: rs1442599990
rs1442599990
1.000 0.160 7 107672147 missense variant A/G snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 18 1997 2009
dbSNP: rs1554354382
rs1554354382
1.000 0.160 7 107672242 missense variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 18 1997 2009
dbSNP: rs1554361015
rs1554361015
1.000 0.160 7 107701981 missense variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 18 1997 2009