rs11556505
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
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.07
p 1.0e-245
N 901,954
Large GWAS
European
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 2.0e-133
N 27,907
Large GWAS
European, African unspecified, Hispanic or Latin American, Asian unspecified, NR
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 3.0e-215
N 404,467
Large GWAS
multi-ancestry
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 0.13
p 2.0e-15
N 983
Small GWAS
European
metabolic syndrome
Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele C
OR 0.13
p 5.0e-12
N 107,230
Large GWAS
East Asian
insomnia
Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele T
OR 0.01
p 2.0e-8
N 2,365,010
Meta-analysisLarge 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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