{{Rsnum
|rsid=387907075
|Chromosome=2
|position=3643807
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COLEC11
|Gene_s=COLEC11
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=2
|CLNACC=RCV000023959.1
|CLNALLE=1
|CLNDBN=Carnevale syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0796279:265050:293843
|CLNHGVS=NC_000002.11:g.3691397T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=612502.0001
|Disease=Carnevale syndrome
|FwdALT=C
|FwdREF=T
|REF=T
|RSPOS=3691397
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907075
|GENEINFO=COLEC11:78989
|GENE_ID=78989
|GENE_NAME=COLEC11
}}