rs35505893

This variant is located in the STXBP4 gene.

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GWAS Catalog Trait Associations (2)

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

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR 0.02

p 2.0e-14

N 545,203

Large GWAS

European

platelet count

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.01

p 8.0e-14

N 928,679

Large GWAS

multi-ancestry

About STXBP4

Enables syntaxin binding activity. Involved in several processes, including positive regulation of cell cycle G1/S phase transition; positive regulation of keratinocyte proliferation; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

View all STXBP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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