rs56389811

This variant is located in the HDAC7 gene.

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GWAS Catalog Trait Associations (4)

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

Varicose veins

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 8.0e-23
N 638,428
Large GWAS
multi-ancestry

asthma

Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele C
OR —
p 7.0e-11
N 536,345
Large GWAS
multi-ancestry
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele C
OR —
p 5.0e-9
N 281,699
Major Consortium StudyLarge GWAS
European

systolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.28
p 7.0e-11
N 526,001
Large GWAS
European

adult onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele C
OR 1.08
p 2.0e-10
N 339,801
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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