{{Rsnum
|rsid=377767332
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51054864
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=18
|CLNACC=RCV000021688.1
|CLNALLE=1
|CLNDBN=Juvenile polyposis syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
|CLNHGVS=NC_000018.9:g.48581234C>T
|CLNSIG=5
|Disease=Juvenile polyposis syndrome
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=48581234
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=377767332
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=11583957
|Title=Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
|OA=1
}}