Variant: rs104893744 

    present in Gene: MITF
    present in Chromosome: 3
    Position on Chromosome: 69959310
    Alleles of this Variant: T/C

rs104893744 in MITF gene and WAARDENBURG SYNDROME, TYPE IIA PMID 28236341 2017 EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.