rs886663
This is a intron variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.02
p 3.0e-15
N 288,127
Large GWAS
East Asian
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 2.0e-12
N 583,982
Major Consortium StudyLarge GWAS
multi-ancestry
phospholipids:total lipids ratio
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 7.0e-14
N 450,015
Large GWAS
multi-ancestry
hemoglobin measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 1.0e-8
N 502,921
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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