{{Rsnum
|rsid=113993993
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SBDS
|position=66994210
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SBDS
}}{{omim
|id=607444
|rsnum=113993993
|variant=0002
}}{{ClinVar
|rsid=113993993
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=66459197
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000040002110100
|GENEINFO=SBDS:51119
|GENE_NAME=SBDS
|GENE_ID=51119
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.66459197A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1756; 607444.0002
|CLNSIG=255
|CLNCUI=C0272170; C0272170
|CLNDBN=Shwachman syndrome; Aplastic anemia, susceptibility to
|Disease=Shwachman syndrome; Aplastic anemia
|CLNACC=RCV000003347.1; RCV000003348.1
|Tags=RV;PM;PMC;SLO;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1756:C0272170:260400:811:89454001; C2684859
}}{{PMID Auto
|PMID=17478638
|Title=Mutations in the SBDS gene in acquired aplastic anemia.
|OA=1
}}