{{Rsnum
|rsid = 28939716
|Gene = PHOX2B
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Chromosome=4
|position=41747357
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PHOX2B
}}{{omim
|desc=HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA
|id=603851
|rsnum=28939716
|variant=0006
}}{{ClinVar
|rsid=28939716
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=41749374
|CHROM=4
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PHOX2B:8929
|GENE_NAME=PHOX2B
|GENE_ID=8929
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.41749374G>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000006383.1
|CLNDBN=Hirschsprung disease ganglioneuroblastoma
|CLNDSDB=MedGen
|CLNDSDBID=C2751683
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603851.0006
|Disease=Hirschsprung disease ganglioneuroblastoma
}}

{{on chip | 23andMe v4}}