Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204739
rs786204739
SLC26A4
G 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: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. 24105851

2014
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients. 23296490

2013
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. 23185506

2012
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs786204739
rs786204739
SLC26A4
G 0.700 GeneticVariation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007