rs63749891

A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is C;G: early-onset Alzheimers disease

Gene
PSEN1
Location
Chr 1473,198,094 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;GMost notableBadearly-onset Alzheimers diseaseVery important · 9.0
  2. G;GGoodcommon in clinvarTypical · 0.0
  3. G;TBadAlzheimer's disease, early-onset (reported)Very important · 8.8

On SNPedia: (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PSEN1 SNPs

All PSEN1 SNPs

Notes

From SNPedia

Notes

rs63749891 represents a SNP in the presenilin 1 PSEN1 gene. There are two known mutations considered c.833G>T (p.Arg278Ile) Inherited as an autosomal dominant, there are three known mutations in rs63749891 associated with early-onset Alzheimer's disease: * rs63749891(T), also known as c.833G>T, p.Arg278Ile or R278I (ClinVar) * rs63749891(C), also known as c.833G>C, p.Arg278Thr or R278T (ClinVar) * rs63749891(A), also known as c.833G>A, p.Arg278Lys or R278K (DIAN)

C;G

See discussion and citations on rs63749891 webpage in SNPedia.

G;T

See discussion and links via main rs-page

Source and license

Adapted from rs63749891 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.