rs2075650

A SNP in the TOMM40 gene on chromosome 19. Its most notable genotype is A;G: possibly 2x higher Alzheimer's risk

Gene: TOMM40
Location: Chr 1944,892,362 (GRCh38)
Highest magnitude: 2.0Worth knowing
Tested on: 23andMe, AncestryDNA
Minor allele frequency: 13%

Genotypes

As shown in 23andMe and AncestryDNA files.

On SNPedia: (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 11 HapMap populations.

AverageA;A 77% A;G 21% G;G 2%
European ancestry (Utah)A;A 72% A;G 25% G;G 4%
Han Chinese (Beijing)A;A 77% A;G 22% G;G <1%
Japanese (Tokyo)A;A 80% A;G 20% G;G <1%
Yoruba (Nigeria)A;A 75% A;G 21% G;G 4%
African ancestry (Southwest US)A;A 74% A;G 23% G;G 4%
Chinese (Denver)A;A 83% A;G 16% G;G 2%
Gujarati IndianA;A 78% A;G 19% G;G 3%
Luhya (Kenya)A;A 67% A;G 31% G;G 2%
Mexican ancestry (Los Angeles)A;A 78% A;G 22% G;G 0%
Maasai (Kenya)A;A 80% A;G 19% G;G <1%
TuscanA;A 82% A;G 17% G;G 1%

Conditions, medicines and genes

Other TOMM40 SNPs

All TOMM40 SNPs

Notes

From SNPedia

Show notes, about 350 words

Located close to ApoE4, yet may independently (also) influence risk of Alzheimer's disease. A case-control study of 381 patients found a 2x higher risk for Alzheimer's disease associated with the rarer rs2075650(G) allele. This allele is associated with earlier onset of Alzheimer's disease, by ~7 years. (news) The data from this study are available online at loni.ucla.edu. The association of this SNP with late-onset Alzheimer's disease was confirmed by a study reported in PLoS Genetics. The A allele of this SNP is one of 150 identified as relevant to exceptional longevity in Recent work suggests, however, that the linkage disequilibrium between rs2075650 and the ApoE ε4 defining SNP rs429358 means that there may be little, if any, independent effect of rs2075650 on Alzheimer's risk. ncbi.nlm.nih.gov A 2020 study has found that rs2075650(G) was found to be associated with high-likelihood Alzheimer's disease cases as when the risk allele was found on an APOE ε3 haplotype. rs2075650 was found to be associated with Alzheimer's disease based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs. {{PMID Auto GWAS |PMID=21123754 |Trait=None |Title=Genome-wide association study of CSF biomarkers A{beta}1-42, t-tau, and p-tau181p in the ADNI cohort. |RiskAllele= |Pval=0.000001 |OR=None |ORtxt=None |OA=1 }}

A;A

This is the most common genotype in all known populations. The lack of a (G) at this SNP is associated with somewhat lower risk for Alzheimer's and perhaps therefore greater longevity. See further discussion at rs2075650.

A;G

Recent work suggests, however, that the linkage disequilibrium between rs2075650 and the ApoE ε4 defining SNP rs429358 means that there may be little, if any, independent effect of rs2075650 on Alzheimer's risk.

G;G

Source and license

Adapted from rs2075650 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.