rs3824662

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

▶

GWAS Catalog Trait Associations (3)

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

B-cell acute lymphoblastic leukemia

Vijayakrishnan J et al. “Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.” Nature Communications 10(1):5348 (2019)
Allele A
OR 1.29
p 4.0e-14
N 21,987
Large GWAS
European
Migliorini G et al. “Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.” Blood 122(19):3298-307 (2013)
Allele A
OR 1.31
p 9.0e-12
N 6,381
Large GWAS
European
Clay-Gilmour AI et al. “Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex.” Blood Advances 1(20):1717-1728 (2017)
Allele A
OR —
p 1.0e-8
N 3,220
Large GWAS
European

acute lymphoblastic leukemia

Perez-Andreu V et al. “A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.” Blood 125(4):680-6 (2015)
Allele A
OR 1.77
p 3.0e-10
N 6,969
Large GWAS
multi-ancestry

Hodgkins lymphoma

Chen C et al. “Association of Single-Nucleotide Variants in the Human Leukocyte Antigen and Other Loci With Childhood Hodgkin Lymphoma.” Jama Network Open 5(8):e2225647 (2022)
Allele C
OR 1.52
p 4.0e-10
N 7,848
Large GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
2 submitters5 publications

not provided; 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]

View all GATA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…