rs1275986

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GWAS Catalog Trait Associations (4)

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

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 C
OR 0.04
p 4.0e-58
N 609,354
Major Consortium StudyLarge GWAS
multi-ancestry

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 C
OR 0.02
p 1.0e-17
N 425,748
Major Consortium StudyLarge GWAS
European

systolic 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 C
OR 0.05
p 3.0e-15
N 57,991
Major Consortium StudyLarge GWAS
Hispanic or Latin American
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Research that mentions this SNP (1)

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A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease
AssociationN=1,400Jae-Jung Kim et al.(2011)· Human Genetics

A genome-wide association study of Korean Kawasaki disease (KD) patients identified rs527409 on chromosome 1p31 as a susceptibility locus (OR=2.90, p=1.46×10⁻⁶) and rs7604693 in the PELI1 gene on 2p13.3 as a locus associated with coronary artery lesions (OR=2.70, p=2.00×10⁻⁶). The study involved 186 Korean KD cases and 600 controls in the initial GWAS, with replication in 266 additional Korean KD cases and 248 Taiwanese cases.

Traits studied:Coronary artery lesionsKawasaki disease
PubMedDOIMetascience Observatory

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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