rs10788817

This variant is located in the THEM4 gene.

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GWAS Catalog Trait Associations (4)

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

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 0.25
p 5.0e-18
N 2,466
Large GWAS
multi-ancestry

tetradecadienoate (14:2) measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.12
p 8.0e-17
N 8,255
Large GWAS
European

serum metabolite level

Yu B et al. “Genetic determinants influencing human serum metabolome among African Americans.” Plos Genetics 10(3):e1004212 (2014)
Allele G
OR 0.11
p 3.0e-13
N 1,260
Large GWAS
African American or Afro-Caribbean

3-hydroxylaurate measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.11
p 2.0e-12
N 8,206
Large GWAS
European

About THEM4

Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]

View all THEM4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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