rs849140
This is a intron variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
BMI-adjusted waist circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 5.0e-17
N 143,480
Large GWAS
multi-ancestry
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele T
OR 0.02
p 2.0e-9
N 152,914
Meta-analysisLarge GWAS
multi-ancestry
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 8.0e-11
N 122,328
Meta-analysisLarge GWAS
multi-ancestry
smoking behavior, BMI-adjusted waist circumference
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele T
OR 0.03
p 3.0e-12
N 195,506
Meta-analysisLarge GWAS
multi-ancestry
Drugs used in diabetes use measurement
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.08
p 6.0e-12
N 305,913
Major Consortium StudyLarge GWAS
European
BMI-adjusted hip circumference
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 T
OR 0.02
p 3.0e-10
N 186,825
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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