rs849135
This is a intron variant variant in the JAZF1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.04
p 5.0e-59
N 455,180
Large GWAS
Hispanic or Latin American
type 2 diabetes mellitus
Xue A et al. “Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.” Nature Communications 9(1):2941 (2018)
Allele G
OR 0.10
p 1.0e-43
N 659,316
Large GWAS
multi-ancestry
Mahajan A et al. “Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.” Nature Genetics 46(3):234-44 (2014)
Allele G
OR 1.12
p 2.0e-9
N 110,452
Meta-analysisLarge GWAS
multi-ancestry
Morris AP et al. “Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes” Nature Genetics (2012)
Allele G
OR 1.11
p 3.0e-13
N 69,033
Large GWAS
multi-ancestry
body mass index
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.01
p 8.0e-12
N 694,649
Large GWAS
European
psoriasis, type 2 diabetes mellitus
Patrick MT et al. “Causal Relationship and Shared Genetic Loci between Psoriasis and Type 2 Diabetes through Trans-Disease Meta-Analysis.” The Journal of Investigative Dermatology 141(6):1493-1502 (2021)
Allele G
OR 1.06
p 5.0e-10
N 925,490
Meta-analysisLarge GWAS
European
monocyte count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.01
p 3.0e-9
N 408,112
Large GWAS
European
systemic lupus erythematosus
Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele G
OR 0.06
p 3.0e-9
N 718,496
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.
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