{{Rsnum
|rsid=75030631
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SMN1
|position=70220935
|Gene_s=SMN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=75030631
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=70220935
|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.70220935C>G
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0006
|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=RCV000009739.1; RCV000009740.1
|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
}}