rs10076782

This is a intron variant variant in the RNF145 gene.

▶

GWAS Catalog Trait Associations (2)

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

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele A

OR 0.07

p 2.0e-12

N 29,662

Large GWAS

European

platelet volume

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)

Allele A

OR 0.01

p 4.0e-8

N 18,600

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

PubMed DOI Metascience Observatory

About RNF145

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ERAD pathway and proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Jul 2025]