rs111784051
This is a intron variant variant in the TOMM40 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cholesterol to total lipids in small HDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.42
p 3.0e-200
N 88,329
Large GWAS
European
free cholesterol to total lipids in small HDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.40
p 6.0e-197
N 88,329
Large GWAS
European
free cholesterol to total lipids in medium LDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.38
p 2.0e-175
N 88,329
Large GWAS
European
low density lipoprotein cholesterol measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.37
p 3.0e-150
N 88,329
Large GWAS
European
C-reactive protein measurement
Oh K et al. “A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism.” Scientific Reports 15(1):189 (2025)
Allele G
OR 0.08
p 1.0e-18
N 71,019
Large GWAS
East Asian
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 G
OR —
p 1.0e-17
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 G
OR —
p 2.0e-14
N 404,467
Large GWAS
multi-ancestry
body weight
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 2.0e-12
N 394,642
Large GWAS
European
metabolite measurement
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele G
OR 0.31
p 3.0e-12
N 2,466
Large GWAS
multi-ancestry
cholesteryl ester measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.38
p 8.0e-159
N 88,329
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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