rs7240256

This is a regulatory region variant variant in the NFATC1 gene.

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GWAS Catalog Trait Associations (1)

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

Thyroid preparation use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.06
p 1.0e-9
N 305,582
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
AssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

Traits studied:Atrial Septal DefectCongenital Heart DiseaseTetralogy of FallotVentricular Septal Defect
PubMedDOIMetascience Observatory

About NFATC1

The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]

View all NFATC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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