Variant: rs1060499808 

    present in Gene: SLC26A4
    present in Chromosome: 7
    Position on Chromosome: 107704344
    Alleles of this Variant: T/C

rs1060499808 in SLC26A4 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 30622556 2018 Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

PMID 14679580 2004 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.