rs59007384
This is a downstream gene variant variant in the TOMM40 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Alzheimer disease, family history of Alzheimer’s disease
Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele T
OR —
p 1.0e-188
N 404,467
Large GWAS
multi-ancestry
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 1.0e-51
N 239,268
Large GWAS
European
protein S100-A12 measurement
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele T
OR 1.11
p 2.0e-24
N 195
Small GWAS
European
acetoacetate measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 4.0e-18
N 450,015
Large GWAS
multi-ancestry
docosahexaenoic acid to total fatty acids percentage
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-13
N 239,268
Large GWAS
European
cerebral amyloid deposition measurement
Yan Q et al. “Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.” Molecular Psychiatry 26(1):309-321 (2021)
Allele T
OR 0.11
p 3.0e-13
N 983
Small GWAS
European
1-arachidoyl-GPC (20:0) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.09
p 3.0e-12
N 14,296
Large GWAS
European
BMI-adjusted waist-hip ratio
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.02
p 5.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European
Alzheimer disease
Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele T
OR —
p 5.0e-11
N 27,907
Large GWAS
European, African unspecified, Hispanic or Latin American, Asian unspecified, NR
1-eicosenoyl-GPC (20:1) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.08
p 1.0e-9
N 14,296
Large GWAS
European
About TOMM40
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
View all TOMM40 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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