{{Rsnum
|rsid = 28942099
|Gene = SBDS
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Chromosome=7
|position=66995394
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SBDS,TYW1
}}{{omim
|desc=SHWACHMAN-DIAMOND SYNDROME
|id=607444
|rsnum=28942099
|variant=0003
}}

{{ClinVar
|rsid=28942099
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=66460381
|CHROM=7
|dbSNPBuildID=137
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SBDS:51119; TYW1:55253
|GENE_NAME=SBDS; TYW1
|GENE_ID=51119; 55253
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.66460381G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607444.0003
|CLNSIG=5
|CLNCUI=C0272170
|CLNDBN=Shwachman syndrome
|Disease=Shwachman syndrome
|CLNACC=RCV000003349.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1756:C0272170:260400:811:89454001
}}

{{on chip | 23andMe v1}}