{{Rsnum
|rsid=193922153
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL1A1
|position=50189173
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922153
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48266534
|CHROM=17
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48266534G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000029573.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
|GENEINFO=COL1A1:1277
|GENE_ID=1277
|GENE_NAME=COL1A1
}}{{PMID Auto
|PMID=16786509
|Title=Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
}}