{{Rsnum
|rsid=121912866
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL2A1
|position=47978698
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912866
|variant=0005
}}{{ClinVar
|rsid=121912866
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48372481
|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.48372481G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNACC=RCV000018899.22
|CLNDBN=Stickler syndrome type 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1302:CN032634:108300:828
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120140.0005
|Disease=Stickler syndrome type 1
}}