{{Rsnum
|rsid=377767385
|Chromosome=18
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GAAGTACTTCATAC)
|geno3=(GAAGTACTTCATAC;GAAGTACTTCATAC)
|Gene=SMAD4
|position=51078420
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=18
|CLNACC=RCV000021759.1
|CLNALLE=1
|CLNDBN=Jp/hht
|CLNHGVS=NC_000018.9:g.48604790_48604803delGAAGTACTTCATAC
|CLNSIG=5
|Disease=Jp/hht
|FwdREF=GAAGTACTTCATAC
|REF=CGAAGTACTTCATAC
|RSPOS=48604789
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD
|VC=DIV
|VP=0x050068000000000002100200
|WGT=0
|dbSNPBuildID=137
|rsid=377767385
|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).
}}