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: rs111033306
rs111033306
SLC26A4
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: rs777008062
rs777008062
SLC26A4
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: rs786204426
rs786204426
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661644 start lost G/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs111033313
rs111033313
SLC26A4
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: rs1057516988
rs1057516988
SLC26A4
1.000 0.160 7 107674163 splice acceptor variant G/A snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2007 2015
dbSNP: rs111033311
rs111033311
SLC26A4
1.000 0.160 7 107694402 splice acceptor variant G/C snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2004 2010
dbSNP: rs397516411
rs397516411
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2006 2015
dbSNP: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663294 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2002 2005
dbSNP: rs1057516717
rs1057516717
SLC26A4
1.000 0.160 7 107695931 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1057517298
rs1057517298
SLC26A4
1.000 0.160 7 107694620 splice acceptor variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1413121429
rs1413121429
SLC26A4
1.000 0.160 7 107694619 splice acceptor variant A/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1455597424
rs1455597424
SLC26A4
1.000 0.160 7 107710053 splice acceptor variant G/A snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1554357206
rs1554357206
SLC26A4
1.000 0.160 7 107683434 splice acceptor variant ATCTTTTGTTTTATTTCAGACGATAATTGCTAC/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs397516413
rs397516413
SLC26A4
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: rs786204450
rs786204450
SLC26A4
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: rs786204523
rs786204523
SLC26A4
1.000 0.160 7 107710089 frameshift variant T/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 5 1998 2014
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663410 frameshift variant T/- del 4.0E-06 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 1999 2013
dbSNP: rs1275009555
rs1275009555
SLC26A4
1.000 0.160 7 107672182 frameshift variant C/- del 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2007 2015
dbSNP: rs786204601
rs786204601
SLC26A4
0.925 0.160 7 107696014 frameshift variant T/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2011 2013
dbSNP: rs1374999656
rs1374999656
SLC26A4
1.000 0.160 7 107689197 frameshift variant C/- delins 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 1998 2006
dbSNP: rs786204600
rs786204600
SLC26A4
1.000 0.160 7 107683324 frameshift variant C/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs786204730
rs786204730
SLC26A4
1.000 0.160 7 107672192 frameshift variant -/T delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs1057516354
rs1057516354
SLC26A4
1.000 0.160 7 107690212 frameshift variant A/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs1554354801
rs1554354801
SLC26A4
1.000 0.160 7 107674202 frameshift variant G/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2015 2015