rs2816958
This is a intron variant variant in the NR5A2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
ulcerative colitis
Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.20
p 1.0e-18
N 27,432
Large GWAS
multi-ancestry
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele G
OR 0.78
p 1.0e-9
N 376,871
Large GWAS
European
Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.23
p 2.0e-17
N 34,366
Large GWAS
European
inflammatory bowel disease
Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.10
p 4.0e-10
N 34,652
Large GWAS
multi-ancestry
About NR5A2
The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
View all NR5A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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