rs419076

This is a intron variant variant in the MECOM gene.

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GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.24
p 4.0e-60
N 1,028,980
Large GWAS
multi-ancestry
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.21
p 6.0e-19
N 321,262
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.30
p 3.0e-12
N 150,134
Large GWAS
multi-ancestry
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele C
OR 0.24
p 2.0e-12
N 69,395
Large GWAS
European

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.30
p 1.0e-35
N 1,028,980
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 5.0e-15
N 485,664
Large GWAS
multi-ancestry
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.28
p 5.0e-13
N 321,262
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.48
p 2.0e-11
N 150,134
Large GWAS
multi-ancestry
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele C
OR 0.41
p 2.0e-13
N 69,395
Large GWAS
European

level of cobalamin binding intrinsic factor in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 1.0e-20
N 47,745
Large GWAS
European

mean arterial pressure

Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele T
OR 0.34
p 8.0e-13
N 74,064
Large GWAS
European

About MECOM

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

View all MECOM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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