Gene: SLC26A4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045933779
rs1045933779
SLC26A4
C 0.700 GeneticVariation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
dbSNP: rs1045933779
rs1045933779
SLC26A4
C 0.700 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015
dbSNP: rs1045933779
rs1045933779
SLC26A4
C 0.700 GeneticVariation CLINVAR Significance of unilateral enlarged vestibular aqueduct. 23401162

2013
dbSNP: rs1045933779
rs1045933779
SLC26A4
C 0.700 GeneticVariation CLINVAR High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. 20146813

2010
dbSNP: rs1057516243
rs1057516243
SLC26A4
T 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014
dbSNP: rs1057516243
rs1057516243
SLC26A4
T 0.700 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1057516243
rs1057516243
SLC26A4
T 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs1057516354
rs1057516354
SLC26A4
C 0.700 GeneticVariation CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825

2008
dbSNP: rs1057516535
rs1057516535
SLC26A4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516634
rs1057516634
SLC26A4 ; SLC26A4-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516636
rs1057516636
SLC26A4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516658
rs1057516658
SLC26A4 ; SLC26A4-AS1
A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1057516678
rs1057516678
SLC26A4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516717
rs1057516717
SLC26A4
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516796
rs1057516796
SLC26A4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516881
rs1057516881
SLC26A4
A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1057516881
rs1057516881
SLC26A4
A 0.700 CausalMutation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs1057516881
rs1057516881
SLC26A4
A 0.700 CausalMutation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
T 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1057516988
rs1057516988
SLC26A4
A 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014
dbSNP: rs1057516988
rs1057516988
SLC26A4
A 0.700 CausalMutation CLINVAR Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. 17940114

2008
dbSNP: rs1057516988
rs1057516988
SLC26A4
A 0.700 CausalMutation CLINVAR Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. 26100058

2015
dbSNP: rs1057516988
rs1057516988
SLC26A4
A 0.700 CausalMutation CLINVAR Two common and three novel PDS mutations in Thai patients with Pendred syndrome. 18250610

2007
dbSNP: rs1057517000
rs1057517000
SLC26A4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517000
rs1057517000
SLC26A4
A 0.700 GeneticVariation CLINVAR A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. 23838540

2013