{{Rsnum
|rsid=397518413
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51078294
|Gene_s=SMAD4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=18
|CLNACC=RCV000074360.2
|CLNALLE=1
|CLNDBN=Myhre syndrome
|CLNDSDB=MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=C0796081:139210:603391:2588
|CLNHGVS=NC_000018.9:g.48604664C>T
|CLNORIGIN=1
|CLNSIG=5
|Disease=Myhre syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=SMAD4:4089
|GENE_ID=4089
|GENE_NAME=SMAD4
|REF=C
|RSPOS=48604664
|Reversed=0
|SAO=3
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397518413
}}