{{Rsnum
|rsid=121912944
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL11A1
|position=102962750
|Gene_s=COL11A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120280
|rsnum=121912944
|variant=0003
}}{{ClinVar
|rsid=121912944
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=102962750
|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.102962750C>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_080629.2:c.2963G>T; 120280.0003
|CLNSIG=5
|CLNCUI=CN071412
|CLNDBN=Marshall/Stickler syndrome
|Disease=Marshall/Stickler syndrome
|CLNACC=RCV000018671.26
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN071412
}}