rs4151224
This is a intron variant variant in the MNAT1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele A
OR 1.40
p 4.0e-9
N 287
Small GWAS
multi-ancestry
About MNAT1
The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all MNAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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