Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746

2013

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive. 20108392

2010

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900

2010

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 14508505

2003

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 10700480

2000

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 10190331

1999

dbSNP: rs397516414
rs397516414
0.700 GeneticVariation UNIPROT A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998