{{Rsnum
|rsid=144751329
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL1A1
|position=50194380
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=144751329
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=48271741
|CHROM=17
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050060000000000002100100
|GENEINFO=COL1A1:1277
|GENE_NAME=COL1A1
|GENE_ID=1277
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48271741C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=PM;OTHERKG;LSD
|CLNACC=RCV000029557.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
}}