{{Rsnum
|rsid=377767324
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AT)
|geno3=(AT;AT)
|Gene=SMAD4
|position=51048809
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=AAT
|CHROM=18
|CLNACC=RCV000021680.1
|CLNALLE=1
|CLNDBN=Juvenile polyposis syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1469:C0345893:174900:9273005
|CLNHGVS=NC_000018.9:g.48575179_48575180insAT
|CLNSIG=5
|Disease=Juvenile polyposis syndrome
|FwdALT=AT
|REF=A
|RSPOS=48575179
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=377767324
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=18823382
|Title=The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
}}