{{Rsnum
|rsid=5352
|Gene=EDNRB
|Chromosome=13
|position=77901095
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.006887
|Gene_s=EDNRB,EDNRB-AS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 5.6 | 94.4
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 3.7 | 96.3
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 1.0 | 99.0
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 1.9 | 98.1
| MEX | 0.0 | 12.7 | 87.3
| MKK | 0.0 | 0.6 | 99.4
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}
{{omim
|desc=HIRSCHSPRUNG DISEASE 2
|id=131244
|rsnum=5352
|variant=0006
}}

{{ neighbor
| rsid = 5351
| distance = 83
}}

{{ClinVar
|rsid=5352
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=78475230
|CHROM=13
|GMAF=0.0069
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050260000000050517110100
|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.78475230C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=131244.0006
|CLNSIG=255
|CLNCUI=C1838564
|CLNDBN=Hirschsprung disease 2
|Disease=Hirschsprung disease 2
|CLNACC=RCV000018118.1
|Tags=RV;PM;S3D;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9931; 0.006887
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1439:C1838564:600155:388
|COMMON=1
}}

{{GET Evidence
|gene=EDNRB
|aa_change=Ser305Asn
|aa_change_short=S305N
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5352
|overall_frequency_n=111
|overall_frequency_d=10756
|overall_frequency=0.0103198
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.008
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}