Variant: rs1553572967 

    present in Gene: PAX3;LOC107985991
    present in Chromosome: 2
    Position on Chromosome: 222221300
    Alleles of this Variant: -/C

rs1553572967 in PAX3;LOC107985991 gene and Waardenburg Syndrome PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 9017978 1997 Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.

PMID 8533800 1995 Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.