{{Rsnum
|rsid = 34604265
|Gene = EDN3
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=20
|position=59321024
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EDN3
}}{{Venter SNP
|rsid=34604265
|allele=T
|frequency=
|uid=1103643233419
|type=heterozygous_SNP
|hugo=EDN3
|ensembl gene=ENSG00000124205
|ensembl transcript=ENST00000311585
|sift=AFFECT FUNCTION
|disease=Defects in EDN3 are a cause of Waardenburg syndrome type IV (WS4) (MIM:277580); also known as Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}