{{Rsnum
|rsid=72645328
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL1A1
|position=50196670
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=72645328
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48274031
|CHROM=17
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050168000000000002100100
|GENEINFO=COL1A1:1277
|GENE_NAME=COL1A1
|GENE_ID=1277
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48274031C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD
|CLNACC=RCV000029584.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
}}

{{PMID Auto
|PMID=17078022
|Title=Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}