Variant: rs74315205

present in Gene: WFS1;LOC107986257 present in Chromosome: 4 Position on Chromosome: 6302385 Alleles of this Variant: G/A

rs74315205 in WFS1;LOC107986257 gene and DEAFNESS, AUTOSOMAL DOMINANT 6 PMID 21917145 2011 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

rs74315205 in WFS1;LOC107986257 gene and Wolfram-Like Syndrome, Autosomal Dominant PMID 20069065 2010 Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

PMID 16648378 2006 Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.