rs12541595

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GWAS Catalog Trait Associations (7)

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

left ventricular ejection fraction measurement

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.39
p 6.0e-17
N 36,083
Large GWAS
European, NR
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 3.0e-12
N 32,532
Large GWAS
European
Tadros R et al. “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.” Nature Genetics 53(2):128-134 (2021)
Allele G
OR 0.40
p 6.0e-11
N 19,260
Large GWAS
European

left ventricular systolic function measurement

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.48
p 2.0e-16
N 36,083
Large GWAS
European, NR
Tadros R et al. “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.” Nature Genetics 53(2):128-134 (2021)
Allele G
OR 1.00
p 4.0e-12
N 19,260
Large GWAS
European

left ventricular structural measurement

Wild PS et al. “Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.” The Journal of Clinical Investigation 127(5):1798-1812 (2017)
Allele T
OR 0.02
p 2.0e-13
N 30,201
Large GWAS
European
Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele T
OR 0.06
p 4.0e-9
N 36,203
Large GWAS
European, NR

left ventricular function

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.17
p 8.0e-12
N 36,033
Large GWAS
European, NR

hematocrit

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 4.0e-11
N 737,823
Large GWAS
multi-ancestry

heart function attribute

Tadros R et al. “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.” Nature Genetics 53(2):128-134 (2021)
Allele G
OR 0.20
p 2.0e-9
N 19,260
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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