rs1001441

This variant is located in the SLFN14 gene.

GWAS Catalog Trait Associations (2)

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

platelet component distribution width

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.13
p 9.0e-127
N 408,112
Large GWAS
European

platelet volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.05
p 2.0e-23
N 408,112
Large GWAS
European

ClinVar annotation

Benign☆☆☆
2 submitters1 publication

SLFN14-related disorder; not specified

View on ClinVar →

About SLFN14

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

View all SLFN14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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