{{Rsnum
|rsid=281875324
|Chromosome=18
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SMAD4
|position=51065456
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=18
|CLNACC=RCV000021704.1; RCV000059737.1
|CLNALLE=1
|CLNDBN=Juvenile polyposis syndrome; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
|CLNHGVS=NC_000018.9:g.48591826A>G
|CLNSIG=5
|Disease=Juvenile polyposis syndrome; not provided
|FwdALT=G
|FwdREF=A
|REF=A
|RSPOS=48591826
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050368000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875324
|CLNSRC=UniProtKB (variants)
|CLNSRCID=VAR_022833
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=12417513
|Title=Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
}}