rs880315

This is a intron variant variant in the CASZ1 gene.

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GWAS Catalog Trait Associations (72)

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

potassium 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 T
OR 0.04
p 3.0e-59
N 421,503
Major Consortium StudyLarge GWAS
European

Calcium channel blocker use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.09
p 5.0e-47
N 383,104
Large GWAS
multi-ancestry
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 0.10
p 1.0e-30
N 204,378
Major Consortium StudyLarge GWAS
European

diastolic blood pressure change 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 T
OR 0.04
p 6.0e-45
N 609,486
Major Consortium StudyLarge GWAS
multi-ancestry

diastolic blood pressure

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-45
N 609,354
Major Consortium StudyLarge GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.02
p 2.0e-40
N 928,679
Large GWAS
multi-ancestry
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 C
OR 0.18
p 2.0e-12
N 321,262
Large GWAS
multi-ancestry
Ehret GB et al. “The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.” Nature Genetics 48(10):1171-1184 (2016)
Allele C
OR 0.26
p 1.0e-11
N 201,529
Large GWAS
European
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele C
OR —
β 0.027
p 6.0e-16
N 192,763
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.30
p 4.0e-10
N 150,134
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.03
p 8.0e-12
N 145,515
Large GWAS
East Asian
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele C
OR 0.38
p 1.0e-18
N 130,777
Large GWAS
multi-ancestry
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele C
OR 0.53
p 2.0e-21
N 100,453
Large GWAS
East Asian
Kato N et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nature Genetics 43(6):531-8 (2011)
Allele C
OR 0.56
p 3.0e-10
N 19,608
Meta-analysisLarge GWAS
East Asian

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.05
p 5.0e-42
N 2,584,013
Large GWAS
multi-ancestry
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele T
OR 0.05
p 4.0e-16
N 2,339,188
Large GWAS
multi-ancestry
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.04
p 7.0e-18
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele T
OR 1.04
p 5.0e-9
N 588,190
Large GWAS
multi-ancestry

Diuretic use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 2.0e-29
N 407,812
Large GWAS
multi-ancestry
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 0.09
p 2.0e-26
N 229,086
Major Consortium StudyLarge GWAS
European

essential hypertension

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 0.05
p 1.0e-27
N 427,704
Major Consortium StudyLarge GWAS
European

mean arterial pressure

Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele C
OR 0.69
p 7.0e-25
N 100,453
Large GWAS
East Asian
Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.41
p 5.0e-17
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele C
OR 0.49
p 3.0e-23
N 130,777
Large GWAS
multi-ancestry

Beta blocking agent use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 7.0e-19
N 402,750
Large GWAS
multi-ancestry

total cholesterol measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.01
p 1.0e-15
N 928,679
Large GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.01
p 1.0e-10
N 1,320,016
Large 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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