{{Rsnum
|rsid=76871093
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMN1
|position=70241990
|Gene_s=SMN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=76871093
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=70241990
|CHROM=5
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050060000000000402110100
|GENEINFO=SMN1:6606
|GENE_NAME=SMN1
|GENE_ID=6606
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.70241990C>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0002
|CLNSIG=5
|CLNCUI=C0393538; C0393538; C0393538; C0152109; C0152109; C0152109
|CLNDBN=Spinal muscular atrophy, type II; Kugelberg-Welander disease
|Disease=Spinal muscular atrophy; Kugelberg-Welander disease
|CLNACC=RCV000009734.1; RCV000009735.1
|Tags=PM;HD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1352:C0393538:253550:70:83418:128212001; NBK1352:C0152109:253400:54280009
|CLNORIGIN=1
}}