{{Rsnum
|rsid=377767382
|Chromosome=18
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51078406
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C,G
|CHROM=18
|CLNACC=RCV000021757.1; RCV000021755.1
|CLNALLE=1; 2
|CLNDBN=Jp/hht
|CLNHGVS=NC_000018.9:g.48604776T>C; NC_000018.9:g.48604776T>G
|CLNSIG=5
|Disease=Jp/hht
|FwdALT=C,G
|FwdREF=T
|REF=T
|RSPOS=48604776
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD
|VC=SNV
|VP=0x050068000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=377767382
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
}}{{PMID Auto
|PMID=15031030
|Title=A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
}}

{{PMID Auto
|PMID=20101697
|Title=Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
}}