rs13066214
This variant is located in the NBEAL2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
leukocyte quantity
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 6.0e-10
N 154,355
Large GWAS
East Asian
▶ClinVar annotation
Benign★★★☆
4 submitters1 publicationnot specified; not provided; Gray platelet syndrome
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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