rs28780086

This is a protein-altering variant in the TRIM40 gene.

GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

platelet volume

Allele G
OR 0.11
p 3.0e-84
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.09
p 8.0e-30
N 408,112
Large GWAS
European

level of E3 ubiquitin ligase TRIM40 in blood

Allele G
OR 0.31
p 1.0e-52
N 47,745
Large GWAS
European

platelet count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.08
p 1.0e-25
N 408,112
Large GWAS
European

body height

Allele G
OR 0.02
p 8.0e-12
N 394,642
Large GWAS
European
Allele G
OR 0.02
p 6.0e-9
N 405,540
Large GWAS
European

body mass index

Allele G
OR 0.24
p 6.0e-9
N 283,749
Major Consortium StudyLarge GWAS
European

About TRIM40

This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

View all TRIM40 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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