rs12760175
This is a intron variant variant in the MAST2 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.
erythrocyte count
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 0.04
p 1.0e-39
N 581,817
Major Consortium StudyLarge GWAS
multi-ancestry
hemoglobin measurement
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 0.03
p 3.0e-26
N 584,668
Major Consortium StudyLarge GWAS
multi-ancestry
hematocrit
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 0.03
p 4.0e-24
N 584,647
Major Consortium StudyLarge GWAS
multi-ancestry
About MAST2
Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]
View all MAST2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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