rs28933390
A SNP in the BCHE gene on chromosome 3. Its most notable genotype is A;A: Pseudocholinesterase Deficiency
- Gene
- BCHE
- Location
- Chr 3165,829,781 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CBadPossible pseudocholinesterase deficiency carrier
- A;AMost notableBadPseudocholinesterase Deficiency
SNPedia records rs28933390 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other BCHE SNPs
Genosets
- Gs254Pseudocholinesterase DeficiencyVery important
- Gs253Pseudocholinesterase Deficiency carrierImportant
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Notes
(T;T) abolishes catalytic activity in BCHE according to annerwright Pseudocholinesterase Deficiency
A;C
Variant of uncertain significance; definitely unaffected in absence of a second BCHE gene mutation; see links via main rs-page
Source and license
Adapted from rs28933390 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.