rs452036

This is a intron variant variant in the MYH6 gene.

▶

GWAS Catalog Trait Associations (5)

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

diastolic blood pressure change 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 0.02
p 6.0e-17
N 609,486
Major Consortium StudyLarge GWAS
multi-ancestry

pulse pressure measurement

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele A
OR 0.27
p 2.0e-16
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele A
OR 0.26
p 4.0e-16
N 192,763
Large GWAS
multi-ancestry

heart rate

Eijgelsheim M et al. “Genome-wide association analysis identifies multiple loci related to resting heart rate.” Human Molecular Genetics 19(19):3885-94 (2010)
Allele A
OR 7.80
p 4.0e-14
N 38,991
Large GWAS
European

heart shape trait

Burns R et al. “Genetic basis of right and left ventricular heart shape.” Nature Communications 15(1):9437 (2024)
Allele G
OR 0.04
p 5.0e-11
N 35,055
Large GWAS
European

P wave duration

Christophersen IE et al. “Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.” Circulation. Cardiovascular Genetics 10(4) (2017)
Allele A
OR 0.59
p 6.0e-10
N 44,456
Large GWAS
multi-ancestry
▶

ClinVar annotation

Benign★★★☆
8 submitters2 publications

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]

View all MYH6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…