{{Rsnum
|rsid=72648320
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL1A1
|position=50195433
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=72648320
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48272794
|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.48272794C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD
|CLNACC=RCV000029553.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
}}

{{PMID Auto
|PMID=7942841
|Title=Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
|OA=1
}}

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