rs113736796

This is a regulatory region variant variant in the HDAC7 gene.

GWAS Catalog Trait Associations (4)

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

platelet count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.08
p 3.0e-39
N 408,112
Large GWAS
European

platelet crit

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.07
p 2.0e-32
N 408,112
Large GWAS
European

lymphocyte percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.05
p 2.0e-16
N 408,112
Large GWAS
European
Allele G
OR 0.04
p 1.0e-14
N 394,642
Large GWAS
European

neutrophil percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.05
p 6.0e-15
N 408,112
Large GWAS
European
Allele G
OR 0.04
p 1.0e-14
N 394,642
Large GWAS
European

About HDAC7

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all HDAC7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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