{{Rsnum
|rsid=398122835
|Chromosome=17
|Orientation=minus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=COL1A1
|position=50185779
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=17
|CLNACC=RCV000034354.27
|CLNALLE=1
|CLNDBN=Osteogenesis imperfecta, recessive perinatal lethal
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1295:C0268360:166210:86470003
|CLNHGVS=NC_000017.10:g.48263140delG
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120150.0069
|Disease=Osteogenesis imperfecta
|FwdREF=C
|GENEINFO=COL1A1:1277
|GENE_ID=1277
|GENE_NAME=COL1A1
|REF=CG
|RSPOS=48263139
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=138
|rsid=398122835
}}