rs11734132

This is a intergenic variant variant.

GWAS Catalog Trait Associations (10)

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

platelet volume

Allele C
OR 0.17
p 9.0e-37
N 71,605
Large GWAS
East Asian
Gieger C et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480(7376):201-8 (2011)
Allele C
OR 0.01
p 1.0e-11
N 18,600
Large GWAS
European

C-X-C motif chemokine 5 measurement

Allele C
OR 0.07
p 6.0e-25
N 47,745
Large GWAS
European

immature platelet count

Allele C
OR 0.09
p 2.0e-23
N 36,618
Large GWAS
European

level of C-X-C motif chemokine 3 in blood serum

Allele C
OR 0.06
p 4.0e-16
N 47,745
Large GWAS
European

Kunitz-type protease inhibitor 2 measurement

Allele C
OR 0.06
p 2.0e-15
N 47,745
Large GWAS
European

interleukin-7 measurement

Allele C
OR 0.06
p 1.0e-14
N 47,745
Large GWAS
European

SPARC measurement

Allele C
OR 0.05
p 5.0e-12
N 47,745
Large GWAS
European

growth-regulated alpha protein measurement

Allele C
OR 0.05
p 1.0e-11
N 47,745
Large GWAS
European

platelet count

Allele C
OR 0.06
p 1.0e-57
N 153,950
Large GWAS
East Asian
Burley K et al. PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry. Research and Practice in Thrombosis and Haemostasis 7(4):100175 (2023)
Allele C
OR 0.08
p 1.0e-8
N 20,218
Large GWAS
South Asian

platelet quantity

Allele C
OR 0.08
p 1.0e-13
N 29,658
Large GWAS
European

Research that mentions this SNP (1)

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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