rs6198

This is a downstream gene variant variant in the NR3C1 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.03

p 9.0e-15

N 455,180

Large GWAS

Hispanic or Latin American

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ClinVar annotation

Benign★☆☆☆

1 submitter

Glucocorticoid resistance

View on ClinVar →

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Research that mentions this SNP (1)

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Polymorphisms in the glucocorticoid receptor gene and in the glucocorticoid-induced transcript 1 gene are associated with disease activity and response to glucocorticoid bridging therapy in rheumatoid arthritis

AssociationN=138Quax RA et al.(2015)· Rheumatology International

This prospective study of 138 patients with rheumatoid arthritis (RA) examined associations between polymorphisms in the glucocorticoid receptor (GR) gene and the glucocorticoid-induced transcript 1 gene (GLCCI1) with baseline disease activity and response to glucocorticoid bridging therapy. Carriers of GR polymorphisms and GLCCI1 variants associated with decreased GC sensitivity (9β-G, ER22/23EK-A/A, GLCCI1-T alleles) showed higher baseline disease activity. The GLCCI1 gene minor allele (rs37972 T allele) was associated with significantly lower clinical response to GC therapy specifically in male RA patients, suggesting gender-specific pharmacogenetic effects.

Traits studied:Disease activityGlucocorticoid responseRheumatoid arthritis

PubMed DOI Metascience Observatory

About NR3C1

This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]