rs56356382

This is a regulatory region variant variant in the ZBTB7A gene.

GWAS Catalog Trait Associations (8)

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

mean corpuscular hemoglobin

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 5.0e-84
N 408,112
Large GWAS
European

erythrocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 4.0e-65
N 408,112
Large GWAS
European

mean reticulocyte volume

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 6.0e-43
N 408,112
Large GWAS
European
Allele C
OR 0.03
p 1.0e-40
N 394,642
Large GWAS
European

body mass index

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.02
p 6.0e-20
N 694,649
Large GWAS
European
Allele T
OR 0.02
p 3.0e-19
N 806,834
Meta-analysisLarge GWAS
European

pulse pressure measurement

Allele C
OR 0.16
p 5.0e-13
N 1,028,980
Large GWAS
multi-ancestry
Allele C
OR 0.16
p 1.0e-10
N 459,777
Large GWAS
multi-ancestry

cigarettes per day measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.02
p 2.0e-12
N 337,334
Large GWAS
European

visceral adipose tissue quantity

Allele C
OR 0.02
p 7.0e-12
N 325,153
Large GWAS
European

erythrocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 1.0e-77
N 408,112
Large GWAS
European

About ZBTB7A

Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all ZBTB7A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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