rs12460541

This variant is located in the RSPH6A gene.

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GWAS Catalog Trait Associations (4)

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

hypertrophic cardiomyopathy

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 0.16
p 1.0e-14
N 28,106
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

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 0.03
p 4.0e-11
N 35,055
Large GWAS
European

About RSPH6A

The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]

View all RSPH6A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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