rs9980

This is a coding sequence variant variant in the NFAT5 gene.

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GWAS Catalog Trait Associations (2)

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

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele C
OR 0.91
p 9.0e-46
N 2,206,883
Large GWAS
European

blood osmolality

Böger CA et al. “NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.” Journal of the American Society of Nephrology : Jasn 28(8):2311-2321 (2017)
Allele G
OR —
β 0.060
p 6.0e-12
N 61,869
Large GWAS
multi-ancestry

About NFAT5

The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all NFAT5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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