{{Rsnum
|rsid=193922140
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COL1A1
|position=50194419
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922140
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=48271780
|CHROM=17
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48271780C>G
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;OTHERKG;LSD
|CLNACC=RCV000029556.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
|GENEINFO=COL1A1:1277
|GENE_ID=1277
|GENE_NAME=COL1A1
}}