{{Rsnum
|rsid=104893735
|Chromosome=3
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COLQ
|position=15466437
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COLQ
}}{{omim
|id=603033
|rsnum=104893735
|variant=0010
}}{{ClinVar
|rsid=104893735
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=15507944
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COLQ:8292
|GENE_NAME=COLQ
|GENE_ID=8292
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.15507944C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603033.0010
|CLNSIG=5
|CLNCUI=C1864233
|CLNDBN=Endplate acetylcholinesterase deficiency
|Disease=Endplate acetylcholinesterase deficiency
|CLNACC=RCV000007036.2
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864233:603034:590
}}