rs55702649

This variant is located in the TRRAP gene.

GWAS Catalog Trait Associations (2)

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

erythrocyte volume

Allele C
OR 0.04
p 4.0e-20
N 394,642
Large GWAS
European

mean corpuscular hemoglobin

Allele C
OR 0.04
p 3.0e-17
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 4.0e-13
N 408,112
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters2 publications
View on ClinVar →

About TRRAP

This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

View all TRRAP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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