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: 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: 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: rs1057516634
rs1057516634
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs397516430
rs397516430
SLC26A4 ; SLC26A4-AS1
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: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 27 1997 2014
dbSNP: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
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: rs201636911
rs201636911
SLC26A4 ; SLC26A4-AS1
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: rs786204504
rs786204504
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661805 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2012 2013
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107661807 splice donor variant T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 2 2016 2017
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: rs111033200
rs111033200
SLC26A4 ; SLC26A4-AS1
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: rs1345175795
rs1345175795
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663358 missense variant C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2007 2016
dbSNP: rs786204581
rs786204581
SLC26A4 ; SLC26A4-AS1
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: rs1057516658
rs1057516658
SLC26A4 ; SLC26A4-AS1
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: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663390 missense variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2009 2017
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
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: 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: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs111033241
rs111033241
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663423 frameshift variant CACGC/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0
dbSNP: rs1219724284
rs1219724284
SLC26A4 ; SLC26A4-AS1
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: rs746238617
rs746238617
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663437 splice donor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1442599990
rs1442599990
SLC26A4
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: rs145254330
rs145254330
SLC26A4
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: 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: 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