Variant: rs74315384 

    present in Gene: EDN3
    present in Chromosome: 20
    Position on Chromosome: 59321127
    Alleles of this Variant: G/T

rs74315384 in EDN3 gene and Waardenburg Syndrome, Type 4b PMID 12189494 2002 SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

PMID 8630503 1996 A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

PMID 11303518 2001 A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?