{{Rsnum
|rsid=377767376
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;A)
|geno3=(A;A)
|Gene=SMAD4
|position=51078395
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMAD4
}}{{ClinVar
|ALT=AA,ATA
|CHROM=18
|CLNACC=RCV000021750.1; RCV000021748.1
|CLNALLE=2; 1
|CLNDBN=Jp/hht; Juvenile polyposis syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
|CLNHGVS=NC_000018.9:g.48604764_48604765dupTA; NC_000018.9:g.48604765dupA
|CLNSIG=5
|Disease=Jp/hht; Juvenile polyposis syndrome
|FwdALT=AA,ATA
|FwdREF=A
|REF=A
|RSPOS=48604765
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=377767376
}}{{PMID Auto
|PMID=18178612
|Title=Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
}}

{{PMID Auto
|PMID=20101697
|Title=Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
}}