rs10850379
This variant is located in the MMAB gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.05
p 3.0e-13
N 38,000
Large GWAS
South Asian
cataract
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 5.0e-12
N 670,603
Large GWAS
multi-ancestry
feeling emotionally hurt measurement
Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele T
OR 6.14
p 9.0e-10
N 372,047
Large GWAS
European
Anxiety
Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele T
OR 0.01
p 2.0e-8
N 348,219
Meta-analysisLarge GWAS
European
Stuttering
Polikowsky HG et al. “Large-scale genome-wide analyses of stuttering.” Nature Genetics 57(8):1835-1847 (2025)
Allele T
OR 1.04
p 2.0e-8
N 374,279
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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