rs8019721
This is a intron variant variant in the SIPA1L1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
QRS-T angle
Young WJ et al. “Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.” Nature Communications 14(1):1411 (2023)
Allele A
OR 0.06
p 1.0e-29
N 118,780
Large GWAS
European, African unspecified, Hispanic or Latin American
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 A
OR 0.14
p 2.0e-9
N 28,106
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR
PR interval
van Setten J et al. “Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.” European Journal of Human Genetics : Ejhg 27(6):952-962 (2019)
Allele A
OR 1.19
p 1.0e-8
N 31,695
Meta-analysisLarge GWAS
multi-ancestry
About SIPA1L1
Predicted to enable GTPase activator activity; actin filament binding activity; and protein kinase binding activity. Predicted to be involved in several processes, including activation of GTPase activity; ephrin receptor signaling pathway; and regulation of postsynapse organization. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SIPA1L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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