rs9593

This is a variant in the MMAB gene that changes a methionine to an lysine.

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GWAS Catalog Trait Associations (3)

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

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 A
OR 1.03
p 4.0e-10
N 944,762
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
15 submitters3 publications

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A); Methylmalonic aciduria, cblB type (MACB); not specified

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About MMAB

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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