Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 GeneticVariation CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290

2017
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 GeneticVariation CLINVAR Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 26752218

2016
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 GeneticVariation CLINVAR Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. 23273637

2013
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 GeneticVariation CLINVAR Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 10878664

2000
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.700 CausalMutation CLINVAR