{{Rsnum
|rsid=80338964
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51067041
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338964
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=48593411
|CHROM=18
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=SMAD4:4089
|GENE_NAME=SMAD4
|GENE_ID=4089
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.48593411C>T
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1469
|CLNSIG=5
|CLNCUI=C0345893; C0345893
|CLNDBN=Juvenile polyposis syndrome
|Disease=Juvenile polyposis syndrome
|CLNACC=RCV000021723.1
|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
}}