{{Rsnum
|rsid=193922154
|Chromosome=17
|Orientation=minus
|geno1=(-;-)
|geno2=(-;AG)
|geno3=(AG;AG)
|Gene=COL1A1
|position=50199589
|Gene_s=COL1A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922154
|Reversed=1
|FwdREF=AG
|FwdALT=
|REF=ACT
|ALT=A
|RSPOS=48276949
|CHROM=17
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000002100200
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48276950_48276951delCT
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=RV;PM;OTHERKG;LSD
|CLNACC=RCV000029574.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
|GENEINFO=COL1A1:1277
|GENE_ID=1277
|GENE_NAME=COL1A1
}}