{{Rsnum
|rsid=1803274
|Gene=BCHE
|Chromosome=3
|position=165773492
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1607
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BCHE
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 3.1 | 30.8 | 66.2
| HCB | 2.2 | 35.6 | 62.2
| JPT | 6.8 | 27.3 | 65.9
| YRI | 0.0 | 33.3 | 66.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.2 | 35.6 | 62.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 1.0 | 27.1 | 71.9
| LWK | 2.9 | 37.1 | 60.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 5.1 | 43.9 | 51.0
| HapMapRevision=28
}}The [[rs1803274]](A) allele encodes a version of the butyrylcholinesterase enzyme known as the K variant; it may also be known as CHE*539T or BCHE*539T. The allele produces a 30% reduction in serum butyrylcholinesterase activity, and it is often co-inherited with the SNP encoding the so-called "atypical" butyrylcholinesterase, [[rs1799807]].{{PMID|1349196|OA=1
}}

Although not replicated by other studies, some studies have found, at least in certain populations, a possible association between this SNP and risk for [[Alzheimer's disease]] (independent of [[ApoE4]] status):

* {{PMID|10190327}} reports ~2x increased Alzheimer's risk for carriers of one or more [[rs1803274]](A) alleles, based on a study of 135 Canadian patients

* {{PMID|10699053|OA=1
}} reports ~3.5x increased Alzheimer's risk for carriers of one or more [[rs1803274]](A) alleles, based on a study of 175 patients from Northern Ireland

* {{PMID|11849755}}: reports an association this SNP and Alzheimer-related neuropathology, but only for K variant homozygotes, and was limited to at ages > or = 70 years but not 50-69 years, based on 521 cases.

Related studies include:

* {{PMID|17701416}} reports that [[rs1803274]](A;A) homozygotes (i.e. K variant homozygotes), but not heterozygotes, are at higher risk factor for developing neurofibrillary tangles, at least in young individuals

{{PMID Auto
|PMID=18780301
|Title=Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine
}}

{{omim
|id=177400
|rsnum=1803274
|variant=0005
}}

{{PMID Auto
|PMID=21473860
|Title=Variation of the Butyrylcholinesterase (BChE) and Acetylcholinesterase (AChE) genes in coronary artery disease
}}

{{PMID Auto GWAS
|PMID=21943158
|Trait=None
|Title=Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
|RiskAllele=T
|Pval=6E-92
|OR=0.3650
|ORtxt=[0.33-0.40] units/l decrease
|OA=1
}}

{{PMID Auto GWAS
|PMID=21862451
|Trait=None
|Title=GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
|RiskAllele=T
|Pval=0
|OR=0.7100
|ORtxt=[0.67-0.75] SD decrease
|OA=1
}}

{{ClinVar
|rsid=1803274
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=165491280
|CHROM=3
|GMAF=0.1607
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05036800000017051f130101
|GENEINFO=BCHE:590
|GENE_NAME=BCHE
|GENE_ID=590
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.165491280C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.8393; 0.1607
|CLNACC=RCV000014120.25; RCV000014122.16
|CLNDBN=BCHE, K variant; CHE*539T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=177400.0005
|COMMON=1
|Disease=BCHE; CHE*539T
}}

{{PMID|20056567|OA=1
}} Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.

{{GET Evidence
|gene=BCHE
|aa_change=Ala567Thr
|aa_change_short=A567T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1803274
|overall_frequency_n=2132
|overall_frequency_d=10754
|overall_frequency=0.198252
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=0
|n_articles_annotated=0
|nblosum100=1
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=24312228
|Title=Butyrylcholinesterase genetic variants: association with cocaine dependence and related phenotypes
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}