{{Rsnum
|rsid=66527965
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL1A1
|position=50193038
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL1A1
}}{{omim
|id=120150
|rsnum=66527965
|variant=0033
}}
{{omim
|id=120150
|rsnum=66527965
|variant=0044
}}{{ClinVar
|rsid=66527965
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=48270399
|CHROM=17
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=COL1A1:1277
|GENE_NAME=COL1A1
|GENE_ID=1277
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000017.10:g.48270399C>A; NC_000017.10:g.48270399C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120150.0033; 120150.0044
|CLNSIG=5
|CLNCUI=CN071435; C0268360
|CLNDBN=OSTEOGENESIS IMPERFECTA, TYPE III/IV; Osteogenesis imperfecta, recessive perinatal lethal
|Disease=OSTEOGENESIS IMPERFECTA; Osteogenesis imperfecta
|CLNACC=RCV000018856.27; RCV000018867.26
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=CN071435; NBK1295:C0268360:166210:86470003
}}