{{Rsnum
|rsid=377767360
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51076662
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=18
|CLNACC=RCV000021731.1; RCV000023059.1
|CLNALLE=1
|CLNDBN=Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1469:C0345893:174900:9273005; NBK1351:C1832942:175050:2929
|CLNHGVS=NC_000018.9:g.48603032C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600993.0014
|Disease=Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=48603032
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=377767360
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=10764709
|Title=Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
|OA=1
}}