rs2305637
This variant is located in the NBEAL2 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of bone marrow proteoglycan in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.09
p 2.0e-38
N 47,745
Large GWAS
European
neutrophil gelatinase-associated lipocalin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 8.0e-26
N 47,745
Large GWAS
European
resistin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 2.0e-19
N 47,745
Large GWAS
European
peptidoglycan recognition protein 1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 5.0e-16
N 47,745
Large GWAS
European
olfactomedin-4 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 1.0e-13
N 47,745
Large GWAS
European
pappalysin-1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 6.0e-12
N 47,745
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
8 submitters2 publicationsnot specified; Gray platelet syndrome; not provided
View on ClinVar →About NBEAL2
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
View all NBEAL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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