{{Rsnum
|rsid=104893927
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SMN1
|position=70238194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMN1
}}{{omim
|id=600354
|rsnum=104893927
|variant=0014
}}{{ClinVar
|rsid=104893927
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=70238194
|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.70238194G>C
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0014
|CLNSIG=5
|CLNCUI=C0152109; C0152109; C0152109
|CLNDBN=Kugelberg-Welander disease
|Disease=Kugelberg-Welander disease
|CLNACC=RCV000009753.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1352:C0152109:253400:54280009
|CLNORIGIN=1
}}