{{Rsnum
|rsid=121912887
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL2A1
|position=47974835
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912887
|variant=0037
}}{{ClinVar
|rsid=121912887
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48368618
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL2A1:1280
|GENE_NAME=COL2A1
|GENE_ID=1280
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.48368618C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNACC=RCV000018930.22
|CLNDBN=Vitreoretinopathy with phalangeal epiphyseal dysplasia
|CLNDSDB=MedGen
|CLNDSDBID=C1852989
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120140.0037
|Disease=Vitreoretinopathy with phalangeal epiphyseal dysplasia
}}