Variant: rs104893651 

    present in Gene: CCDC140;PAX3
    present in Chromosome: 2
    Position on Chromosome: 222297048
    Alleles of this Variant: G/A

rs104893651 in CCDC140;PAX3 gene and Klein's Syndrome PMID 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

PMID 7726174 1995 Homozygosity for Waardenburg syndrome.

PMID 8447316 1993 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).