rs199768005
A SNP in the APOE gene on chromosome 19. Its most notable genotype is A;T: Marked reduced risk of Alzheimer's Disease
- Gene
- APOE
- Location
- Chr 1944,909,057 (GRCh38)
- Highest magnitude
- 2.1Worth knowing
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other APOE SNPs
- rs121918393A;ATwo copies of ApoE3 Christchurch variant (apparently)Very important
- rs121918394A;GHyperlipoproteinemia, type IIIVery important
- rs267606664A;GRare ApoE1 allele; clinical significance unclearVery important
- i5000217C;Tfamilial hyperlipoproteinemia, type IIIImportant
- rs387906567C;TFamilial type 3 hyperlipoproteinemiaImportant
- rs449647T;Tlower levels of ApoEWorth knowing
- rs429358C;Cone of 2 snps relevant to classifying APOE genotypeMinor
- rs7412C;Cpart of APOE4 genoset evaluationMinor
Notes
From SNPedia
Show notes, about 210 words
The minor allele of rs199768005 (A)(p.V236E, T/C sic) is a rare mutation (0.12%) in the APOE gene. It is one of only two protein APOE variants with MAF>0.1% in the Exome Variant Server (EVS, http://evs.gs.washington.edu/EVS/), A study found that carriers of this rare mutation had a markedly reduced risk for AD (OR=0.10, 0.03-0.45). Only 2 of 25 heterozygotes had AD versus 23 controls (4128 LOAD, and 4986 controls). The minor allele of rs199768005 is in phase with the APOE epsilon 3 allele. p.V236E divides the epsilon 3 haplotype into epsilon 3b (the minor allele of rs199768005) and epsilon 3a (major allele of rs199768005). The risk of AD among those with epsilon 3b genotype was substantially reduced(OR=0.11,0.02-0.36, P=2.32x10-3). This decrease in AD risk was AD independent of the epsilon 2, 3 and 4 alleles. If confirmed, this rare genotype might reduce risk of AD more than the well-known epsilon 2 genotype. Within the context of AD, the minor allele of rs199768005 appears to reduce disease risk. However, it is cited on this page and dbsnp as pathogenic in the context of Familial type 3 hyperlipoproteinemia.
A;T
Heterozygote carriers have markedly reduced risk of AD (OR=0.11). These carriers have so-called APOE epsilon 3b.
Source and license
Adapted from rs199768005 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.