{{Rsnum
|rsid=104893933
|Chromosome=5
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=SMN1
|position=70238257
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMN1
}}{{omim
|id=600354
|rsnum=104893933
|variant=0017
}}{{ClinVar
|rsid=104893933
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=70238257
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SMN1:6606
|GENE_NAME=SMN1
|GENE_ID=6606
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.70238257A>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0017
|CLNSIG=5
|CLNCUI=C0043116; C0043116; C0043116
|CLNDBN=Werdnig-Hoffmann disease
|Disease=Werdnig-Hoffmann disease
|CLNACC=RCV000009757.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1352:C0043116:253300:604320:70:83330:64383006
|CLNORIGIN=1
}}