Variant: rs750803248 

    present in Gene: CDH23
    present in Chromosome: 10
    Position on Chromosome: 71646592
    Alleles of this Variant: -/G

rs750803248 in CDH23 gene and Multiple congenital anomalies PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.