{{Rsnum
|rsid=397514518
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMN1
|position=70238299
|Gene_s=SMN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=5
|CLNACC=RCV000032709.1
|CLNALLE=1
|CLNDBN=Kugelberg-Welander disease
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1352:C0152109:253400:54280009
|CLNHGVS=NC_000005.9:g.70238299T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0020
|Disease=Kugelberg-Welander disease
|FwdALT=C
|FwdREF=T
|GENEINFO=SMN1:6606
|GENE_ID=6606
|GENE_NAME=SMN1
|REF=T
|RSPOS=70238299
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514518
}}