rs281865161
A SNP in the APP gene on chromosome 21. Its most notable genotype is GA;TC: Alzheimer's disease, familial
- Gene
- APP
- Location
- Chr 2125,897,626 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (GA;GA), (GA;TC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other APP SNPs
- rs63750973A;GConsidered pathogenic for an early-onset form of Alzheimer's diseaseVery important
- rs63749810C;TEarly-onset Alzheimer's diseaseVery important
- rs63749964A;CLikely miscall in 23andMe v4 data; otherwise, Alzheimer's disease pathogenic mutationVery important
- rs63750066C;TEarly-onset Alzheimer's diseaseVery important
- rs63750151C;GAlzheimer's diseaseVery important
- rs63750264C;TAlzheimer's disease mutationVery important
- rs63750399C;TMutation considered pathogenic for Alzheimer diseaseVery important
- rs63750579C;TCerebral Amyloid AngiopathyVery important
Notes
From SNPedia
Notes
rs281865161, also known as c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu), or also as K670N/M671L, represents a double mutation in the APP gene. It is also known as the 'Swedish mutation'. Inherited dominantly, the (rare) minor allele is considered pathogenic for Alzheimer's disease in both ClinVar and AlzForum. This is reported to lead to a relatively early-onset form of Alzheimer's, with a mean age of onset of 55 years, according to an older (1992) report cited in OMIM.
GA;TC
see discussion at rs281865161
Source and license
Adapted from rs281865161 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.