{{Rsnum
|rsid=72651657
|Chromosome=17
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL1A1
|position=50190869
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL1A1
}}{{omim
|id=120150
|rsnum=72651657
|variant=0056
}}

{{ClinVar
|rsid=72651657
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=48268230
|CHROM=17
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=COL1A1:1277
|GENE_NAME=COL1A1
|GENE_ID=1277
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48268230C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120150.0056
|CLNSIG=5
|CLNCUI=C0268360
|CLNDBN=Osteogenesis imperfecta, recessive perinatal lethal
|Disease=Osteogenesis imperfecta
|CLNACC=RCV000018879.22
|Tags=RV;PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1295:C0268360:166210:86470003
}}

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