rs3781093

This is a regulatory region variant variant in the GATA3 gene.

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GWAS Catalog Trait Associations (2)

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

nodular sclerosis Hodgkin lymphoma

Sud A et al. “Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.” Nature Communications 8(1):1892 (2017)

Allele T

OR 1.39

p 9.0e-13

N 15,603

Large GWAS

European

Hodgkins lymphoma

Sud A et al. “Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.” Nature Communications 8(1):1892 (2017)

Allele T

OR 1.28

p 5.0e-12

N 16,757

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter3 publications

B-cell childhood acute lymphoblastic leukemia

View on ClinVar →

About GATA3

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]