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: rs111033205
rs111033205
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: rs747076316
rs747076316
0.925 0.160 7 107694622 stop gained C/A;G;T snv 2.0E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 5 2005 2011
dbSNP: rs752807925
rs752807925
0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 5 2011 2014
dbSNP: rs370588279
rs370588279
0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.710 1.000 4 2003 2010
dbSNP: rs786204581
rs786204581
0.925 0.160 7 107663366 stop gained C/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 4 2009 2014
dbSNP: rs1057517303
rs1057517303
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: rs142656144
rs142656144
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: rs121908361
rs121908361
0.882 0.160 7 107689156 stop gained A/G;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.710 1.000 2 2010 2015
dbSNP: rs397516416
rs397516416
1.000 0.160 7 107694475 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 2 2007 2013
dbSNP: rs786204502
rs786204502
1.000 0.160 7 107701942 stop gained G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 2 2012 2014
dbSNP: rs1057516658
rs1057516658
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: rs111033200
rs111033200
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: rs1554359693
rs1554359693
1.000 0.160 7 107694694 stop gained G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 1 2013 2013
dbSNP: rs1554361584
rs1554361584
1.000 0.160 7 107704340 stop gained G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 1 2013 2013
dbSNP: rs368119540
rs368119540
1.000 0.160 7 107701943 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 1 2012 2012
dbSNP: rs397516430
rs397516430
1.000 0.160 7 107661709 stop gained C/A;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 1 2004 2004
dbSNP: rs778901860
rs778901860
1.000 0.160 7 107701161 stop gained A/T snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 1 2012 2012
dbSNP: rs1057516678
rs1057516678
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: rs201636911
rs201636911
1.000 0.160 7 107661783 stop gained G/A;T snv 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs727503431
rs727503431
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: 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