{{Rsnum
|rsid=104893935
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SMN1
|position=70238243
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMN1
}}{{omim
|id=600354
|rsnum=104893935
|variant=0015
}}{{ClinVar
|rsid=104893935
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=70238243
|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.70238243C>G
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0015
|CLNSIG=5
|CLNCUI=C0043116; C0043116; C0043116; C0393538; C0393538; C0393538
|CLNDBN=Werdnig-Hoffmann disease; Spinal muscular atrophy, type II
|Disease=Werdnig-Hoffmann disease; Spinal muscular atrophy
|CLNACC=RCV000009754.1; RCV000009755.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1352:C0043116:253300:604320:70:83330:64383006; NBK1352:C0393538:253550:70:83418:128212001
|CLNORIGIN=1
}}