{{Rsnum
|rsid=113993991
|Chromosome=7
|Orientation=minus
|geno1=(CT;CT)
|geno2=(CT;TA)
|geno3=(TA;TA)
|Gene=SBDS
|position=66994286
|Gene_s=SBDS
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=113993991
|Reversed=1
|FwdREF=TA
|FwdALT=CT
|REF=TTA
|ALT=TAG
|RSPOS=66459272
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110800
|GENEINFO=SBDS:51119
|GENE_NAME=SBDS
|GENE_ID=51119
|WGT=0
|VC=MNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.66459273_66459274delTAinsAG
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1756; 607444.0001
|CLNSIG=5
|CLNCUI=C0272170; C0272170; C0272170; C0272170
|CLNDBN=Shwachman syndrome
|Disease=Shwachman syndrome
|CLNACC=RCV000003346.2
|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.
}}

{{PMID Auto
|PMID=16867904
|Title=Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
}}