rs116075662
This is a upstream gene variant variant in the MMAA gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
vitamin B12 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 0.18
p 2.0e-12
N 620,960
Major Consortium StudyLarge GWAS
multi-ancestry
megaloblastic anemia
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 0.18
p 1.0e-11
N 440,680
Major Consortium StudyLarge GWAS
European
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]
View all MMAA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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