{{Rsnum
|rsid=878945
|Gene=COLQ
|Chromosome=3
|position=15467820
|Orientation=minus
|GMAF=0.4793
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=COLQ
}}{{Venter SNP
|rsid=878945
|allele=G
|frequency=
|uid=1103656032369
|type=homozygous_SNP
|hugo=COLQ
|ensembl gene=ENSG00000206561
|ensembl transcript=ENST00000383785
|sift=
|disease=Defects in COLQ are the cause of end-plate acetylcholinesterase deficiency (EAD) (MIM:603034); also known as congenital myasthenic syndrome type IC (CMS-IC). This rare autosomal recessive disorder is characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions.
}}

{{ population diversity
| geno1 = (C;C)
| geno2 = (C;G)
| geno3 = (G;G)
| CEU | 21.7 | 36.7 | 41.7
| CHB | 33.3 | 40.0 | 26.7
| JPT | 42.2 | 40.0 | 17.8
| YRI | 50.0 | 43.3 | 6.7
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}