rs1799807

A SNP in the BCHE gene on chromosome 3. Its most notable genotype is C;C: Homozygous for "atypical" BuChE; see warning re drug (incl. anesthetic) use

Gene: BCHE
Location: Chr 3165,830,741 (GRCh38)
Highest magnitude: 4.0Very important
Tested on: 23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency: <1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

SNPedia records rs1799807 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 6 HapMap populations.

AverageT;T 98% C;T 2% C;C 0%
European ancestry (Utah)T;T 99% C;T <1% C;C 0%
Han Chinese (Beijing)T;T 100% C;T 0% C;C 0%
Japanese (Tokyo)T;T 100% C;T 0% C;C 0%
Yoruba (Nigeria)T;T 100% C;T 0% C;C 0%
Mexican ancestry (Los Angeles)T;T 98% C;T 2% C;C 0%
TuscanT;T 92% C;T 8% C;C 0%

Other BCHE SNPs

All BCHE SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 370 words

rs1799807, also known as D70G, is a SNP in the BCHE gene. This SNP affects the structure, activity, and substrate specificity of the BuChE (butyrylcholinesterase) enzyme. http://books.google.com/books?id=g87duHRuvDQC&pg=PA47 Cholinesterases and cholinesterase inhibitors, p. 48 The variant form, rs1799807(G), replaces aspartate with glycine at the secondary substrate/inhibitor binding site. This single base substitution yields the "atypical" version of BChE. This version has a lower affinity for many substrates, including many Cholinesterase Inhibitors (CIs). A different cholinesterase (acetylcholinesterase, AChE) is an important component of neurotransmission by acetylcholine (ACh), terminating the action of ACh after it has been released during neurotransmission. BChE is found widely in the plasma and normally binds to CIs, protecting AChE from being inhibited by CIs and so maintaining normal neurotransmission by acetylcholine. Practical consequences of altered substrate affinity from this SNP include: * Succinylcholine, commonly used as an anesthetic, depends on BChE hydrolysis for recovery. rs1799807(G;G) homozygotes experience a much delayed return to spontaneous breathing following its use. * "Atypical" BChE has a low affinity for CI alkaloids naturally occuring in certain plants, particularly those in the nightshade family (potato, tomato, peppers, eggplant, etc.). rs1799807(G) carriers may be more prone to physiological consequences of AChE inhibition from eating these foods. * Many pesticides are CIs, including organophosphates and carbamates. rs1799807(G) carriers may have atypical reactions to pesticide residues on foods and in the environment. * Many nerve agents, such as Sarin and VX gas, as well agents used to protect soldiers against them, such as pyridostigmine, are CIs. rs1799807(G) carriers may be more susceptible to exposure to these agents. "Atypical" BuChE, rs1799807(G), has 30% lower enzymatic activity than the wild-type enzyme. Homoygous carriers of this polymorphism, rs1799807(G;G), display extreme anxiety after exposure to CIs. Pseudocholinesterase Deficiency

C;T

http://www.genomesunzipped.org/2011/09/direct-to-consumer-genetic-test-results-in-a-clinical-setting-a-case-report.php

Source and license

Adapted from rs1799807 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.