rs41281112
This is a stop gained variant in the CLYBL gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 C
OR —
p 9.0e-35
N 38,229
Large GWAS
European
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele C
OR 0.19
p 1.0e-13
N 38,000
Large GWAS
South Asian
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 C
OR 0.29
p 2.0e-26
N 614,724
Major Consortium StudyLarge GWAS
multi-ancestry
X-11787 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.28
p 4.0e-19
N 14,296
Large GWAS
European
About CLYBL
Enables (S)-citramalyl-CoA lyase activity; magnesium ion binding activity; and malate synthase activity. Involved in protein homotrimerization and regulation of cobalamin metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
View all CLYBL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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