{{Rsnum
|rsid=113993996
|Chromosome=7
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SBDS
|position=66991256
|Gene_s=SBDS
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=113993996
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=66456243
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=SBDS:51119
|GENE_NAME=SBDS
|GENE_ID=51119
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.66456243G>A
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1756
|CLNSIG=5
|CLNCUI=C0272170
|CLNDBN=Shwachman syndrome
|Disease=Shwachman syndrome
|CLNACC=RCV000020731.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1756:C0272170:260400:811:89454001
}}{{PMID Auto
|PMID=12496757
|Title=Mutations in SBDS are associated with Shwachman-Diamond syndrome.
}}

{{PMID Auto
|PMID=15284109
|Title=Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
}}
{{omim
|id=260400
|rsnum=113993996
}}