rs9648346
This is a upstream gene variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lymphocyte count
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.02
p 3.0e-25
N 524,923
Large GWAS
European
cholesteryl esters in small HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 2.0e-24
N 450,015
Large GWAS
multi-ancestry
concentration of small HDL particles measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 4.0e-20
N 450,015
Large GWAS
multi-ancestry
Eczematoid dermatitis, allergic rhinitis
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele G
OR 1.06
p 2.0e-15
N 323,807
Major Consortium StudyLarge GWAS
European
allergic rhinitis
Waage J et al. “Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.” Nature Genetics 50(8):1072-1080 (2018)
Allele G
OR 1.05
p 3.0e-14
N 212,120
Large 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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