{{Rsnum
|rsid=139446305
|Gene=COL1A2
|Chromosome=7
|position=94411099
|Orientation=plus
|GMAF=0.0004591
|Gene_s=COL1A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=139446305
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=94040411
|CHROM=7
|GMAF=0.0005
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050260000000000016100100
|GENEINFO=COL1A2:1278
|GENE_NAME=COL1A2
|GENE_ID=1278
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.94040411G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Osteogenesis imperfecta
|Disease=Osteogenesis imperfecta
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591
|CLNACC=RCV000029590.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1295:C0029434:78314001
|COMMON=0
}}