{{Rsnum
|rsid=398122391
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CT)
|geno3=(CT;CT)
|Gene=COL18A1
|position=45510091
|Gene_s=COL18A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=21
|CLNACC=RCV000055632.27
|CLNALLE=1
|CLNDBN=Knobloch syndrome 1
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849409:267750:1571
|CLNHGVS=NC_000021.8:g.46930005_46930006delCT
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120328.0008
|Disease=Knobloch syndrome 1
|FwdREF=CT
|GENEINFO=COL18A1:80781
|GENE_ID=80781
|GENE_NAME=COL18A1
|REF=CCT
|RSPOS=46930004
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=138
|rsid=398122391
}}