{{Rsnum
|rsid=11570351
|Gene=EDN3
|Chromosome=20
|position=59324412
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EDN3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.0 | 1.4 | 98.6
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 2.7 | 97.3
| MEX | 0.0 | 1.7 | 98.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{omim
|desc=HIRSCHSPRUNG DISEASE
|id=131242
|rsnum=11570351
|variant=0005
}}

{{ClinVar
|rsid=11570351
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=57899467
|CHROM=20
|GMAF=0.0023
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050160000000040517110100
|GENEINFO=EDN3:1908
|GENE_NAME=EDN3
|GENE_ID=1908
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.57899467G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=131242.0005
|CLNSIG=255
|CLNCUI=C3150975
|CLNDBN=Hirschsprung disease 4
|Disease=Hirschsprung disease 4
|CLNACC=RCV000018127.1
|Tags=PM;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9977; 0.002296
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3150975:613712:388
|COMMON=1
}}

{{GET Evidence
|gene=EDN3
|aa_change=Ala224Thr
|aa_change_short=A224T
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs11570351
|overall_frequency_n=19
|overall_frequency_d=10758
|overall_frequency=0.00176613
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.035
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=9
|summary_short=Found heterozygously in one patient with Hirschsprung disease, potentially causes increased susceptibility. The gene is associated with this disease but evidence is weak.
}}

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