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: rs121908362
rs121908362
0.923 0.143 7 107710132 missense variant A/G snp 1.2E-04 6.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 1.000 20 1999 2015
dbSNP: rs111033307
rs111033307
0.923 0.143 7 107694473 missense variant T/G snp 1.0E-04 9.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 1.000 17 1999 2013
dbSNP: rs111033199
rs111033199
0.878 0.179 7 107672245 missense variant G/A,C,T snp 1.8E-04; 4.0E-06 6.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 17 1997 2015
dbSNP: rs80338848
rs80338848
0.923 0.143 7 107675051 missense variant T/C snp 2.7E-04 4.5E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 14 1993 2013
dbSNP: rs28939086
rs28939086
0.923 0.143 7 107690220 missense variant A/C,G snp 2.0E-04; 4.0E-06 1.3E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 12 1993 2015
dbSNP: rs121908363
rs121908363
0.923 0.143 7 107710126 missense variant C/T snp 5.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 11 1999 2016
dbSNP: rs111033256
rs111033256
0.923 0.143 7 107675060 missense variant T/A snp 2.0E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 9 2003 2014
dbSNP: rs111033257
rs111033257
1.000 0.143 7 107700162 missense variant G/A snp 3.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 9 1999 2013
dbSNP: rs111033348
rs111033348
1.000 0.143 7 107674326 missense variant C/T snp 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 3 1996 2005
dbSNP: rs111033305
rs111033305
0.923 0.143 7 107690200 missense variant G/A,C snp 1.0E-04; 8.0E-06 6.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 23 1999 2015
dbSNP: rs111033220
rs111033220
0.923 0.143 7 107690203 missense variant C/G,T snp 4.0E-06; 1.8E-04 6.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 22 1999 2015
dbSNP: rs111033244
rs111033244
1.000 0.143 7 107690125 missense variant A/G snp 1.1E-04 9.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 18 1993 2013
dbSNP: rs111033205
rs111033205
0.923 0.214 7 107661726 stop gained G/C,T snp 9.3E-05; 6.2E-06 2.2E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 14 2001 2015
dbSNP: rs111033303
rs111033303
0.923 0.143 7 107674970 missense variant G/T snp 3.0E-04 2.9E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 14 1999 2015
dbSNP: rs111033254
rs111033254
1.000 0.143 7 107698085 missense variant T/C snp 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 12 1999 2015
dbSNP: rs539699299
rs539699299
0.846 0.143 7 107661725 missense variant C/A,G snp 3.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 10 2002 2015
dbSNP: rs145254330
rs145254330
0.923 0.143 7 107672182 missense variant C/T snp 3.3E-04 3.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 7 2000 2016
dbSNP: rs111033309
rs111033309
1.000 0.143 7 107702038 missense variant G/A,C snp 6.4E-05; 4.0E-06 6.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 5 1999 2013
dbSNP: rs111033316
rs111033316
1.000 0.143 7 107696036 missense variant A/G snp 5.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 2 2006 2009
dbSNP: rs121908365
rs121908365
1.000 0.143 7 107672230 missense variant T/A,C snp
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 2 2002 2003
dbSNP: rs121908360
rs121908360
1.000 0.143 7 107702023 missense variant T/G snp
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 1 1997 1997
dbSNP: rs370588279
rs370588279
0.923 0.143 7 107663400 stop gained C/A,T snp 4.0E-06; 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.710 1.000 4 2003 2010
dbSNP: rs201636911
rs201636911
1.000 0.143 7 107661783 stop gained G/A,T snp 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.710 1.000 1 2012 2012
dbSNP: rs768471577
rs768471577
0.923 0.143 7 107694476 missense variant A/G snp 7.6E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.710 1.000 1 2010 2010
dbSNP: rs111033313
rs111033313
1.000 0.143 7 107683453 splice acceptor variant A/G snp 3.6E-04 4.1E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 17 2000 2015