rs12314392
This variant is located in the MMAB gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele G
OR —
β 0.023
p 2.0e-17
N 287
Small GWAS
multi-ancestry
cholesteryl esters in large HDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-13
N 136,016
Large GWAS
multi-ancestry
total cholesterol change measurement, high density lipoprotein cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-13
N 136,016
Large GWAS
multi-ancestry
phospholipids in very large HDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 8.0e-13
N 136,016
Large GWAS
multi-ancestry
free cholesterol in large HDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-12
N 136,016
Large GWAS
multi-ancestry
total cholesterol measurement
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele G
OR 0.03
p 2.0e-9
N 146,492
Large GWAS
East Asian
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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]
View all MMAB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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