rs1399180

This variant is located 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.

multiple sclerosis

“Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.” Science (new York, N.y.) 365(6460) (2019)

Allele C

OR 1.10

p 7.0e-11

N 41,505

Large GWAS

multi-ancestry

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele C

OR 0.01

p 5.0e-9

N 1,320,016

Large GWAS

European

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.

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