{{Rsnum
|rsid=121912895
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL2A1
|position=47978320
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912895
|variant=0047
}}{{ClinVar
|rsid=121912895
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=48372103
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=COL2A1:1280
|GENE_NAME=COL2A1
|GENE_ID=1280
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.48372103T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120140.0047
|CLNSIG=5
|CLNCUI=C0700635
|CLNDBN=Spondyloepimetaphyseal dysplasia Strudwick type
|Disease=Spondyloepimetaphyseal dysplasia Strudwick type
|CLNACC=RCV000018941.22
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0700635:184250:93346
}}