rs849134
This is a intron variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 A
OR 0.08
p 3.0e-34
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
BMI-adjusted waist-hip ratio
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 6.0e-14
N 219,872
Major Consortium StudyLarge GWAS
European
type 2 diabetes mellitus
Cook JP et al. “Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility.” European Journal of Human Genetics : Ejhg 24(8):1175-80 (2016)
Allele A
OR 1.12
p 6.0e-13
N 71,604
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 2.0e-8
N 177,415
Large GWAS
East Asian
Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nature Genetics 42(7):579-89 (2010)
Allele A
OR 1.13
p 3.0e-9
N 47,117
Large GWAS
European
diverticular disease
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 A
OR 0.04
p 3.0e-11
N 391,713
Major Consortium StudyLarge GWAS
European
body composition measurement
Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele A
OR 0.05
p 8.0e-11
N 38,559
Large GWAS
European
glucose measurement
Lagou V et al. “GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.” Nature Genetics 55(9):1448-1461 (2023)
Allele A
OR 0.00
p 2.0e-9
N 475,416
Large GWAS
multi-ancestry
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 A
OR 0.05
p 2.0e-77
N 338,848
Major Consortium StudyLarge GWAS
European
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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