{{Rsnum
|rsid=121912939
|Chromosome=21
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COL6A1
|position=45989617
|Gene_s=COL6A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120220
|rsnum=121912939
|variant=0013
}}{{ClinVar
|rsid=121912939
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=47409531
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=COL6A1:1291
|GENE_NAME=COL6A1
|GENE_ID=1291
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.47409531G>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000018721.26
|CLNDBN=Ullrich congenital muscular dystrophy, autosomal dominant
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120220.0013
|Disease=Ullrich congenital muscular dystrophy
}}