rs157581
This is a synonymous variant in the TOMM40 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
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 C
OR —
p 9.0e-188
N 404,467
Large GWAS
multi-ancestry
aging
Rosoff DB et al. “Multivariate genome-wide analysis of aging-related traits identifies novel loci and new drug targets for healthy aging.” Nature Aging 3(8):1020-1035 (2023)
Allele T
OR 0.02
p 1.0e-27
N 1,559,001
Large GWAS
European
level of MOB-like protein phocein in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.57
p 3.0e-22
N 466
Small GWAS
African American or Afro-Caribbean
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 C
OR 0.10
p 9.0e-12
N 983
Small GWAS
European
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 C
OR —
p 1.0e-8
N 239,268
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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