Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs111033308
rs111033308
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: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. 25373420

2014
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation 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: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 15679828

2005
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S). 10861298

2000
dbSNP: rs111033308
rs111033308
SLC26A4
A 0.700 CausalMutation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998