{{Rsnum
|rsid=72653173
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL1A1
|position=50188765
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=72653173
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48266126
|CHROM=17
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050368000000000002100100
|GENEINFO=COL1A1:1277
|GENE_NAME=COL1A1
|GENE_ID=1277
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48266126G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD
|CLNACC=RCV000029575.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
}}

{{PMID Auto
|PMID=11113887
|Title=Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
}}

{{PMID Auto
|PMID=15024745
|Title=Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
}}

{{PMID Auto
|PMID=15241796
|Title=Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
}}

{{PMID Auto
|PMID=17392686
|Title=A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
|OA=1
}}

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