{{Rsnum
|rsid=104893931
|Chromosome=5
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=SMN1
|position=70234715
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMN1
}}{{omim
|id=600354
|rsnum=104893931
|variant=0013
}}{{ClinVar
|rsid=104893931
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=70234715
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SMN1:6606
|GENE_NAME=SMN1
|GENE_ID=6606
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.70234715A>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0013
|CLNSIG=5
|CLNCUI=C0152109; C0152109; C0152109
|CLNDBN=Kugelberg-Welander disease
|Disease=Kugelberg-Welander disease
|CLNACC=RCV000009745.3
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1352:C0152109:253400:54280009
|CLNORIGIN=1
}}