rs12046278

This is a intron variant variant in the CASZ1 gene.

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GWAS Catalog Trait Associations (7)

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

systolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.50
p 2.0e-38
N 526,001
Large GWAS
European
Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele T
OR 0.35
p 1.0e-10
N 275,793
Major Consortium StudyLarge GWAS
European
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.36
p 1.0e-8
N 99,785
Large GWAS
multi-ancestry

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.26
p 7.0e-31
N 526,001
Large GWAS
European
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.23
p 7.0e-9
N 99,785
Large GWAS
multi-ancestry

cryptic phenotype measurement

Blair DR et al. “Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.” Nature Communications 13(1):3675 (2022)
Allele C
OR 0.01
p 3.0e-15
N 308,095
Large GWAS
European

pulse pressure measurement

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.20
p 4.0e-14
N 526,001
Large GWAS
European
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.17
p 3.0e-9
N 321,262
Large GWAS
multi-ancestry

Beta blocking agent 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 C
OR 0.06
p 3.0e-13
N 224,024
Major Consortium StudyLarge GWAS
European

treatment-resistant hypertension

Irvin MR et al. “Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group.” American Journal of Hypertension 32(12):1146-1153 (2019)
Allele C
OR 1.41
p 1.0e-8
N 15,141
Major Consortium StudyLarge GWAS
European

About 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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