Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. 30693673

2019
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.800 GeneticVariation CLINVAR A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. 30077349

2019
dbSNP: rs111033305
rs111033305
SLC26A4
A 0.800 GeneticVariation CLINVAR Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 30760291

2019
dbSNP: rs201562855
rs201562855
SLC26A4
T 0.800 GeneticVariation CLINVAR Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. 30086623

2019
dbSNP: rs28939086
rs28939086
SLC26A4
C 0.800 GeneticVariation CLINVAR Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs. 30484383

2019
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. 30622556

2018
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.800 GeneticVariation CLINVAR Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 29048421

2018
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.800 GeneticVariation CLINVAR Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. 29546359

2018
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.800 GeneticVariation CLINVAR Genetics of hearing loss in the Arab population of Northern Israel. 30139988

2018
dbSNP: rs28939086
rs28939086
SLC26A4
C 0.800 GeneticVariation CLINVAR Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. 29739340

2018
dbSNP: rs28939086
rs28939086
SLC26A4
C 0.800 GeneticVariation CLINVAR High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 30240412

2018
dbSNP: rs111033212
rs111033212
SLC26A4
0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290

2017
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962

2017
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304

2017
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 29372807

2017
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033256
rs111033256
SLC26A4
0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033303
rs111033303
SLC26A4
0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033305
rs111033305
SLC26A4
A 0.800 GeneticVariation CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290

2017
dbSNP: rs111033305
rs111033305
SLC26A4
A 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033305
rs111033305
SLC26A4
0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.800 GeneticVariation CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290

2017