Variant: rs876657717 

    present in Gene: PAX3
    present in Chromosome: 2
    Position on Chromosome: 222232202
    Alleles of this Variant: C/T

rs876657717 in PAX3 gene and Waardenburg Syndrome PMID 26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

PMID 9654197 1998 Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

PMID 1349198 1992 Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.