{{Rsnum
|rsid=397514672
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL1A1
|position=50185866
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=17
|CLNACC=RCV000034355.27
|CLNALLE=1
|CLNDBN=Osteogenesis imperfecta, recessive perinatal lethal
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1295:C0268360:166210:86470003
|CLNHGVS=NC_000017.10:g.48263227G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120150.0070
|Disease=Osteogenesis imperfecta
|FwdALT=T
|FwdREF=C
|GENEINFO=COL1A1:1277
|GENE_ID=1277
|GENE_NAME=COL1A1
|REF=G
|RSPOS=48263227
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514672
}}