SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516411
rs397516411 		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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2006 2015
dbSNP: rs397516411
rs397516411 		0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786204426
rs786204426 		1.000 0.160 7 107661644 start lost G/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1562817224
rs1562817224 		7 107661680 frameshift variant C/- delins
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516634
rs1057516634 		1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397516430
rs397516430 		1.000 0.160 7 107661709 stop gained C/A;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1554352234
rs1554352234 		1.000 0.120 7 107661723 missense variant A/G snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554352234
rs1554352234 		1.000 0.120 7 107661723 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 27 1997 2014
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 12 1998 2017
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 21 1997 2013
dbSNP: rs111033205
rs111033205 		0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033205
rs111033205 		0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs111033205
rs111033205 		0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs371544695
rs371544695 		1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs371544695
rs371544695 		1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562817529
rs1562817529 		7 107661795 stop gained A/T snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786204504
rs786204504 		1.000 0.160 7 107661805 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2012 2013
dbSNP: rs397516420
rs397516420 		1.000 0.160 7 107661807 splice donor variant T/A;C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2016 2017
dbSNP: rs786204458
rs786204458 		1.000 0.160 7 107663294 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2002 2005
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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554352676
rs1554352676 		1.000 0.120 7 107663357 missense variant C/T snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2007 2014