{{Rsnum
|rsid=104893930
|Chromosome=5
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SMN1
|position=70234672
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMN1
}}{{omim
|id=600354
|rsnum=104893930
|variant=0012
}}{{ClinVar
|rsid=104893930
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=70234672
|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.70234672G>A
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0012
|CLNSIG=5
|CLNCUI=C0393538; C0393538; C0393538
|CLNDBN=Spinal muscular atrophy, type II
|Disease=Spinal muscular atrophy
|CLNACC=RCV000009752.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1352:C0393538:253550:70:83418:128212001
|CLNORIGIN=1
}}