{{Rsnum
|rsid=398123639
|Chromosome=21
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL6A1
|position=45989082
|Gene_s=COL6A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=21
|CLNACC=RCV000079826.1
|CLNALLE=1
|CLNDBN=not provided
|CLNHGVS=NC_000021.8:g.47408996A>G
|CLNSIG=5
|Disease=not provided
|FwdALT=G
|FwdREF=A
|GENEINFO=COL6A1:1291
|GENE_ID=1291
|GENE_NAME=COL6A1
|REF=A
|RSPOS=47408996
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=138
|rsid=398123639
}}