rs11121615
This is a intron variant variant in the CASZ1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Varicose veins
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.25
p 1.0e-103
N 638,428
Large GWAS
multi-ancestry
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 0.12
p 6.0e-26
N 434,680
Major Consortium StudyLarge GWAS
European
Shadrina AS et al. “Varicose veins of lower extremities: Insights from the first large-scale genetic study.” Plos Genetics 15(4):e1008110 (2019)
Allele T
OR 0.01
p 3.0e-76
N 408,455
CohortLarge GWAS
European
Fukaya E et al. “Clinical and Genetic Determinants of Varicose Veins.” Circulation 138(25):2869-2880 (2018)
Allele T
OR 0.26
p 4.0e-65
N 337,536
CohortLarge GWAS
European
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 2.0e-22
N 450,243
Major Consortium StudyLarge GWAS
European
Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele T
OR 0.06
p 2.0e-13
N 181,862
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout CASZ1
The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
View all CASZ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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