{{Rsnum
|rsid=80338965
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;ACAG)
|geno3=(ACAG;ACAG)
|Gene=SMAD4
|position=51067123
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338965
|Reversed=0
|FwdREF=ACAG
|FwdALT=
|REF=GACAG
|ALT=G
|RSPOS=48593492
|CHROM=18
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110200
|GENEINFO=SMAD4:4089
|GENE_NAME=SMAD4
|GENE_ID=4089
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.48593493_48593496delACAG
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1469
|CLNSIG=5
|CLNCUI=C0345893
|CLNDBN=Juvenile polyposis syndrome; Jp/hht
|Disease=Juvenile polyposis syndrome; Jp/hht
|CLNACC=RCV000020634.1; RCV000021727.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
}}{{PMID Auto
|PMID=15235019
|Title=The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|OA=1
}}