{{Rsnum
|rsid=377767334
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=SMAD4
|position=51058149
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=TG
|CHROM=18
|CLNACC=RCV000021691.1; RCV000021692.1
|CLNALLE=1
|CLNDBN=Juvenile polyposis syndrome; Jp/hht
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
|CLNHGVS=NC_000018.9:g.48584519dupG
|CLNSIG=5
|Disease=Juvenile polyposis syndrome; Jp/hht
|FwdALT=G
|REF=T
|RSPOS=48584513
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=377767334
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=9582123
|Title=Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
}}

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