rs17824620

This is a intron variant variant in the RPH3A gene.

GWAS Catalog Trait Associations (1)

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

platelet count

Gieger C et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480(7376):201-8 (2011)
Allele C
OR 2.46
p 1.0e-8
N 48,666
Large GWAS
European

About RPH3A

The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]

View all RPH3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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