rs182533474

This is a intron variant variant in the JAZF1 gene.

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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-27
N 614,793
Major Consortium StudyLarge GWAS
multi-ancestry

actinic keratosis

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 0.04
p 6.0e-19
N 412,119
Major Consortium StudyLarge GWAS
European

skin neoplasm

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 3.0e-18
N 429,041
Major Consortium StudyLarge GWAS
European

skin cancer

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 0.04
p 8.0e-17
N 431,198
Major Consortium StudyLarge GWAS
European

diabetic polyneuropathy

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-11
N 616,976
Major Consortium StudyLarge GWAS
multi-ancestry

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 C
OR 0.04
p 4.0e-11
N 391,654
Major Consortium StudyLarge GWAS
European

body height

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 0.04
p 1.0e-12
N 119,012
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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 3.0e-11
N 49,152
Major Consortium StudyLarge GWAS
Hispanic or Latin American

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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