rs1635852
This is a regulatory region variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (34)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (34)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
glucose 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 T
OR 0.05
p 1.0e-96
N 419,946
Major Consortium StudyLarge GWAS
European
type 2 diabetes mellitus
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 0.07
p 7.0e-76
N 432,648
Major Consortium StudyLarge GWAS
European
Flannick J et al. “Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.” Nature 570(7759):71-76 (2019)
Allele T
OR 1.12
p 4.0e-9
N 35,912
Large GWAS
multi-ancestry
diabetes mellitus
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 0.07
p 3.0e-74
N 431,305
Major Consortium StudyLarge 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 T
OR 0.05
p 3.0e-60
N 338,640
Major Consortium StudyLarge GWAS
European
diabetes mellitus, Drugs used in diabetes use 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 T
OR 0.08
p 2.0e-44
N 315,668
Major Consortium StudyLarge GWAS
European
total lipids 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 C
OR 0.02
p 3.0e-41
N 450,015
Large GWAS
multi-ancestry
free cholesterol in 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 C
OR 0.02
p 3.0e-34
N 450,015
Large GWAS
multi-ancestry
free 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 C
OR 0.02
p 1.0e-33
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in very large 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 C
OR 0.02
p 9.0e-33
N 450,015
Large GWAS
multi-ancestry
concentration of 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 C
OR 0.02
p 8.0e-31
N 450,015
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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