rs2270655

This variant is located in the MMAA gene.

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GWAS Catalog Trait Associations (2)

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

vitamin B deficiency

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.17

p 3.0e-18

N 614,724

Major Consortium StudyLarge GWAS

multi-ancestry

vitamin B12 measurement

Grarup N et al. “Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.” Plos Genetics 9(6):e1003530 (2013)

Allele G

OR —

p 2.0e-13

N 38,229

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

10 submitters2 publications

not specified; Methylmalonic aciduria, cblA type; not provided

View on ClinVar →

About MMAA

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]