rs365990

This is a variant in the MYH6 gene that changes a valine to an alanine.

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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 G

OR 0.27

p 4.0e-51

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 G

OR 0.29

p 8.0e-30

N 526,001

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.02

p 7.0e-35

N 506,308

Large GWAS

multi-ancestry

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele G

OR 0.23

p 2.0e-19

N 459,777

Large GWAS

multi-ancestry

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele G

OR 0.03

p 4.0e-28

N 349,328

Large GWAS

multi-ancestry

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)

Allele A

OR 0.08

p 4.0e-45

N 63,706

Major Consortium StudyLarge GWAS

European, NR

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)

Allele G

OR 1.05

p 4.0e-24

N 1,650,345

Meta-analysisLarge 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 G

OR 0.09

p 9.0e-15

N 589,441

Large GWAS

multi-ancestry

diastolic blood pressure

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 A

OR 0.02

p 1.0e-17

N 609,477

Major Consortium StudyLarge GWAS

multi-ancestry

Allele A

OR 0.09

p 4.0e-9

N 1,028,980

Large GWAS

multi-ancestry

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.01

p 5.0e-8

N 928,679

Large GWAS

multi-ancestry

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele A

OR 0.19

p 9.0e-15

N 459,777

Large GWAS

multi-ancestry

systolic blood pressure

Allele G

OR 0.17

p 5.0e-12

N 1,028,980

Large GWAS

multi-ancestry

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele G

OR 0.01

p 2.0e-10

N 1,212,859

Large GWAS

European

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)

Allele G

OR 0.33

p 7.0e-10

N 275,793

Major Consortium StudyLarge GWAS

European

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 A

OR 0.08

p 3.0e-200

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 A

OR 0.06

p 5.0e-199

N 394,642

Large GWAS

European

den Hoed M et al. “Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.” Nature Genetics 45(6):621-31 (2013)

Allele A

OR 0.56

p 5.0e-45

N 92,355

Large GWAS

multi-ancestry

Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)

Allele A

OR 0.78

p 4.0e-10

N 26,783

Major Consortium StudyLarge GWAS

European

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)

Allele A

OR 5.25

p 9.0e-11

N 12,670

Large GWAS

European

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ClinVar annotation

Benign★★★☆

13 submitters4 publications

Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not specified

View on ClinVar →

About MYH6

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

rs365990

GWAS Catalog Trait Associations (6)

pulse pressure measurement

electrocardiography

atrial fibrillation

diastolic blood pressure

systolic blood pressure

heart rate

ClinVar annotation

About MYH6

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