rs1078004

This variant is located in the MAT2A gene.

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GWAS Catalog Trait Associations (2)

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

angina pectoris

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.08

p 2.0e-9

N 608,573

Large GWAS

multi-ancestry

prostate carcinoma

Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)

Allele C

OR 1.08

p 9.0e-46

N 726,828

Large GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters2 publications

not specified; Familial thoracic aortic aneurysm and aortic dissection; Cardiovascular phenotype; not provided

View on ClinVar →

About MAT2A

The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]

View all MAT2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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