{{Rsnum
|rsid=121912943
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL11A1
|position=103004633
|Gene_s=COL11A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120280
|rsnum=121912943
|variant=0001
}}{{ClinVar
|rsid=121912943
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=103004633
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=COL11A1:1301
|GENE_NAME=COL11A1
|GENE_ID=1301
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.103004633C>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_080629.2:c.1910G>T; 120280.0001
|CLNSIG=5
|CLNCUI=C1858084
|CLNDBN=Stickler syndrome, type 2
|Disease=Stickler syndrome
|CLNACC=RCV000018669.26
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1302:C1858084:604841:ORPHA828
}}