{{Rsnum
|rsid=119473034
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMARCAL1
|position=216414753
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMARCAL1
}}{{omim
|id=606622
|rsnum=119473034
|variant=0002
}}{{ClinVar
|rsid=119473034
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=217279476
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SMARCAL1:50485
|GENE_NAME=SMARCAL1
|GENE_ID=50485
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.217279476C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606622.0002
|CLNSIG=5
|CLNCUI=C0877024
|CLNDBN=Schimke immunoosseous dysplasia
|Disease=Schimke immunoosseous dysplasia
|CLNACC=RCV000004389.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1376:C0877024:242900:1830
}}