{{Rsnum
|rsid=76163360
|Chromosome=5
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SMN1
|position=70247769
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=132
}}{{omim
|id=600354
|rsnum=76163360
|variant=0005
}}{{ClinVar
|rsid=76163360
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=70247769
|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.70247769G>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600354.0005
|CLNSIG=5
|CLNCUI=C0043116; C0043116; C0043116
|CLNDBN=Werdnig-Hoffmann disease
|Disease=Werdnig-Hoffmann disease
|CLNACC=RCV000009738.3
|Tags=RV;PM;HD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1352:C0043116:253300:604320:70:83330:64383006
|CLNORIGIN=1
}}