rs1708302
This is a intron variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (33)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (33)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)
Allele C
OR 1.10
p 1.0e-48
N 898,130
Large GWAS
European
Bonàs-Guarch S et al. “Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.” Nature Communications 9(1):321 (2018)
Allele C
OR 1.15
p 3.0e-19
N 70,127
Large GWAS
European
HbA1c measurement
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 C
OR 0.05
p 6.0e-47
N 492,335
Major Consortium StudyLarge GWAS
multi-ancestry
diabetic neuropathy
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 C
OR 0.07
p 1.0e-40
N 434,644
Major Consortium StudyLarge GWAS
European
cholesteryl ester measurement
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 0.02
p 1.0e-38
N 450,015
Large GWAS
multi-ancestry
cholesterol in very large 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 T
OR 0.02
p 3.0e-38
N 450,015
Large GWAS
multi-ancestry
concentration of very large 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 T
OR 0.02
p 1.0e-37
N 450,015
Large GWAS
multi-ancestry
hemoglobin A1 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 0.03
p 1.0e-30
N 415,403
Large GWAS
multi-ancestry
free cholesterol to total lipids in small HDL percentage
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 0.02
p 1.0e-29
N 450,015
Large GWAS
multi-ancestry
cholesteryl esters to total lipids in large VLDL percentage
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 0.02
p 3.0e-27
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in medium HDL percentage
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 0.02
p 1.0e-25
N 450,015
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…