rs67250450
This is a intron variant variant in the JAZF1 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.
rheumatoid arthritis
Okada Y et al. “Genetics of rheumatoid arthritis contributes to biology and drug discovery.” Nature 506(7488):376-381 (2014)
Allele T
OR 1.11
p 3.0e-9
N 79,799
Large GWAS
multi-ancestry
Alzheimer disease
Lake J et al. “Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.” Molecular Psychiatry 28(7):3121-3132 (2023)
Allele T
OR —
p 1.0e-8
N 644,188
Meta-analysisLarge GWAS
multi-ancestry
About JAZF1
This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
View all JAZF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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