{{Rsnum
|rsid=121912581
|Chromosome=18
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SMAD4
|position=51065521
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=600993
|rsnum=121912581
|variant=0011
}}{{ClinVar
|rsid=121912581
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=48591891
|CHROM=18
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=SMAD4:4089
|GENE_NAME=SMAD4
|GENE_ID=4089
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.48591891G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000009075.1; RCV000021707.1; RCV000059731.1
|CLNDBN=Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JP and JP/HHT; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1351:C1832942:175050:2929
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=600993.0011; VAR_019571
|Disease=Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JP and JP/HHT; not provided
}}{{PMID Auto
|PMID=12417513
|Title=Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
}}

{{PMID Auto
|PMID=15031030
|Title=A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
}}