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: 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: rs1219724284
rs1219724284
1.000 0.160 7 107663435 missense variant G/C snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 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
dbSNP: rs397516414
rs397516414
0.925 0.160 7 107690178 missense variant G/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 18 1997 2009
dbSNP: rs200455203
rs200455203
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 14 2007 2014
dbSNP: rs111033308
rs111033308
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
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: rs786204474
rs786204474
0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 10 2007 2014
dbSNP: rs111033318
rs111033318
0.925 0.160 7 107702050 missense variant T/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 9 2003 2014
dbSNP: rs786204739
rs786204739
0.925 0.160 7 107698083 missense variant T/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 8 2007 2014
dbSNP: rs786204450
rs786204450
1.000 0.160 7 107698042 frameshift variant -/C delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 7 2003 2013
dbSNP: rs1057517042
rs1057517042
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: rs111033306
rs111033306
1.000 0.160 7 107694419 inframe deletion TGC/- delins 2.8E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 6 1998 2013
dbSNP: rs142498437
rs142498437
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
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
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: rs111033313
rs111033313
0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 5 1999 2012
dbSNP: rs147952620
rs147952620
0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 1.000 5 2010 2014
dbSNP: rs1554360358
rs1554360358
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: rs727505088
rs727505088
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: 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