{{Rsnum
|rsid=377767351
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TC)
|geno3=(TC;TC)
|Gene=SMAD4
|position=51065569
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=18
|CLNACC=RCV000021717.1
|CLNALLE=1
|CLNDBN=Jp/hht
|CLNHGVS=NC_000018.9:g.48591939_48591940delTC
|CLNSIG=5
|Disease=Jp/hht
|FwdREF=TC
|REF=CTC
|RSPOS=48591936
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD
|VC=DIV
|VP=0x050068000000000002100200
|WGT=0
|dbSNPBuildID=137
|rsid=377767351
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=20101697
|Title=Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
}}