Variant: rs750566714 

    present in Gene: POLR2F;SOX10
    present in Chromosome: 22
    Position on Chromosome: 37978082
    Alleles of this Variant: C/T

rs750566714 in POLR2F;SOX10 gene and WAARDENBURG SYNDROME, TYPE IIE PMID 10441344 1999 A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

PMID 17999358 2007 Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

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