rs3915425

This is a intron variant variant in the MYH11 gene.

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GWAS Catalog Trait Associations (6)

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

pulse pressure measurement

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 0.17
p 9.0e-20
N 1,028,980
Large GWAS
multi-ancestry
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele C
OR 0.19
p 3.0e-12
N 526,001
Large GWAS
European

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.03
p 2.0e-16
N 2,584,013
Large GWAS
multi-ancestry

heart rate response to exercise

Cai L et al. “Causal associations between cardiorespiratory fitness and type 2 diabetes.” Nature Communications 14(1):3904 (2023)
Allele T
OR 0.27
p 8.0e-13
N 69,416
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 0.18
p 5.0e-12
N 1,028,980
Large GWAS
multi-ancestry

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele T
OR 0.03
p 3.0e-8
N 63,706
Major Consortium StudyLarge GWAS
European, NR

heart rate

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 T
OR 0.05
p 1.0e-77
N 425,720
Major Consortium StudyLarge GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 2.0e-35
N 394,642
Large GWAS
European

About MYH11

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]

View all MYH11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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