{{Rsnum
|rsid=387907076
|Chromosome=2
|position=3643912
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COLEC11
|Gene_s=COLEC11
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=2
|CLNACC=RCV000023961.1
|CLNALLE=1
|CLNDBN=Carnevale syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0796279:265050:293843
|CLNHGVS=NC_000002.11:g.3691502G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=612502.0003
|Disease=Carnevale syndrome
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=3691502
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907076
|GENEINFO=COLEC11:78989
|GENE_ID=78989
|GENE_NAME=COLEC11
}}