SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033305
rs111033305
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene]. 21154317 2010
dbSNP: rs786204474
rs786204474
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene]. 21154317 2010
dbSNP: rs80338849
rs80338849
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR [Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. 18167283 2007
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 GeneticVariation CLINVAR [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 29372807 2017
dbSNP: rs146281367
rs146281367
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.700 GeneticVariation CLINVAR [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 29372807 2017
dbSNP: rs1554352718
rs1554352718
Entrez Id: 5172;286002
Gene Symbol: SLC26A4;SLC26A4-AS1
SLC26A4;SLC26A4-AS1
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR [Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography]. 19199245 2009
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962 2017
dbSNP: rs727505088
rs727505088
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962 2017
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 GeneticVariation CLINVAR [Genotypic analysis of familial dilated vestibular aqueduct syndrome]. 16711435 2006
dbSNP: rs111033313
rs111033313
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR [Genotypic analysis of familial dilated vestibular aqueduct syndrome]. 16711435 2006
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 GeneticVariation CLINVAR [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]. 20842945 2010
dbSNP: rs201562855
rs201562855
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 GeneticVariation CLINVAR [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]. 20842945 2010
dbSNP: rs370588279
rs370588279
Entrez Id: 5172;286002
Gene Symbol: SLC26A4;SLC26A4-AS1
SLC26A4;SLC26A4-AS1
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.710 GeneticVariation CLINVAR [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]. 20842945 2010
dbSNP: rs111033304
rs111033304
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0018213
Disease:
Graves Disease 		0.010 GeneticVariation BEFREE Whereas, the p.I300L variant was identified only in GD patients (n=3). 21045265 2010
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.810 GeneticVariation UNIPROT We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome. 12788906 2003
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome. 12788906 2003
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0020676
Disease:
Hypothyroidism 		0.010 GeneticVariation BEFREE We describe a 46-year-old female with sensorineural deafness and hypothyroidism, who presented with severe hypokalaemic metabolic alkalosis during inter-current illnesses on two occasions, and who was found to be homozygous for a loss-of-function mutation (V138F) in SLC26A4. 21551164 2011
dbSNP: rs111033212
rs111033212
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033256
rs111033256
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033303
rs111033303
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033305
rs111033305
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033308
rs111033308
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013
dbSNP: rs111033318
rs111033318
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746 2013