Gene: SLC26A4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
T 0.700 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
C 0.700 CausalMutation CLINVAR Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 29196752

2017
dbSNP: rs727505088
rs727505088
SLC26A4
G 0.700 GeneticVariation CLINVAR Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China. 28786104

2017
dbSNP: rs727505088
rs727505088
SLC26A4
G 0.700 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962

2017
dbSNP: rs1057517042
rs1057517042
SLC26A4
A 0.700 GeneticVariation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1205712508
rs1205712508
SLC26A4
C 0.700 GeneticVariation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1345175795
rs1345175795
SLC26A4 ; SLC26A4-AS1
T 0.700 GeneticVariation CLINVAR Application of SNPscan in Genetic Screening for Common Hearing Loss Genes. 27792752

2016
dbSNP: rs142656144
rs142656144
SLC26A4
A 0.700 CausalMutation CLINVAR Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome. 27240500

2016
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
C 0.700 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs918684449
rs918684449
SLC26A4
C 0.700 GeneticVariation CLINVAR Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016
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: 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: rs1057517303
rs1057517303
SLC26A4
A 0.700 CausalMutation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs111033242
rs111033242
SLC26A4
G 0.700 GeneticVariation CLINVAR DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 25991456

2015
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
dbSNP: rs1275009555
rs1275009555
SLC26A4
T 0.700 CausalMutation CLINVAR Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. 26100058

2015
dbSNP: rs142498437
rs142498437
SLC26A4
G 0.700 GeneticVariation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
dbSNP: rs142656144
rs142656144
SLC26A4
A 0.700 CausalMutation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015
dbSNP: rs1554354801
rs1554354801
SLC26A4
T 0.700 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015
dbSNP: rs1554360358
rs1554360358
SLC26A4
C 0.700 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs397516411
rs397516411
SLC26A4 ; SLC26A4-AS1
G 0.700 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015
dbSNP: rs397516413
rs397516413
SLC26A4
C 0.700 CausalMutation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
dbSNP: rs757820624
rs757820624
SLC26A4
G 0.700 GeneticVariation CLINVAR Challenges and solutions for gene identification in the presence of familial locus heterogeneity. 25491636

2015
dbSNP: rs777008062
rs777008062
SLC26A4
A 0.700 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015