Variant: rs104893882 

    present in Gene: WFS1
    present in Chromosome: 4
    Position on Chromosome: 6301696
    Alleles of this Variant: A/C;G

rs104893882 in WFS1 gene and DEAFNESS, AUTOSOMAL DOMINANT 6 PMID 11709537 2001 Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 12181639 2002 Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

PMID 11709538 2001 Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

PMID 18688868 2008 Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 17517145 2007 A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PMID 18518985 2008 A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

PMID 21356526 2011 Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

PMID 24462758 2014 WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.