rs12147818

This is a intron variant variant in the MNAT1 gene.

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GWAS Catalog Trait Associations (2)

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

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)

Allele G

OR 0.03

p 8.0e-13

N 65,680

Large GWAS

European

optic disc area

Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)

Allele A

OR 0.19

p 3.0e-12

N 24,509

Large GWAS

European

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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