Variant: rs74315515 

    present in Gene: SOX10;POLR2F
    present in Chromosome: 22
    Position on Chromosome: 37983381
    Alleles of this Variant: C/G;T

rs74315515 in SOX10;POLR2F 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 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

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