Variant: rs121909117 

    present in Gene: POLR2F;SOX10
    present in Chromosome: 22
    Position on Chromosome: 37978094
    Alleles of this Variant: G/A

rs121909117 in POLR2F;SOX10 gene and Waardenburg Syndrome, Type 4c PMID 18348274 2008 A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PMID 9462749 1998 SOX10 mutations in patients with Waardenburg-Hirschsprung disease.