{{Rsnum
|rsid=104894387
|Chromosome=13
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=EDNRB
|position=77901181
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EDNRB,SLFN14
}}{{omim
|id=131244
|rsnum=104894387
|variant=0001
}}{{ClinVar
|rsid=104894387
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=78475316
|CHROM=13
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000040002110100
|GENEINFO=EDNRB:1910; EDNRB-AS1:100505518
|GENE_NAME=EDNRB; EDNRB-AS1
|GENE_ID=1910; 100505518
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.78475316C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=131244.0001
|CLNSIG=255
|CLNCUI=C1838564; C1848519
|CLNDBN=Hirschsprung disease 2; Waardenburg syndrome type 4A
|Disease=Hirschsprung disease 2; Waardenburg syndrome type 4A
|CLNACC=RCV000018112.1; RCV000018113.26
|Tags=RV;PM;S3D;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1439:C1838564:600155:388; C1848519:277580:897
}}