rs1004467

This is a regulatory region variant variant in the CYP17A1 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

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 A
OR 0.83
p 3.0e-41
N 321,262
Large 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 A
OR 0.51
p 1.0e-10
N 130,777
Large GWAS
multi-ancestry
Levy D et al. “Genome-wide association study of blood pressure and hypertension.” Nature Genetics 41(6):677-87 (2009)
Allele A
OR 1.05
p 1.0e-10
N 29,136
Large GWAS
European

diastolic blood pressure

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 A
OR 0.32
p 6.0e-17
N 321,262
Large GWAS
multi-ancestry

mean arterial pressure

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 0.49
p 2.0e-11
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

hypertension

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 A
OR 0.08
p 5.0e-9
N 50,792
Large GWAS
multi-ancestry

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele G
OR 0.02
p 1.0e-8
N 523,783
Large GWAS
European

depressive symptom measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele G
OR 0.01
p 2.0e-8
N 1,067,913
Large GWAS
European

pulse pressure measurement

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 A
OR 0.34
p 4.0e-10
N 130,777
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 A
OR 0.50
p 1.0e-13
N 99,785
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Deficiency of steroid 17-alpha-monooxygenase

View on ClinVar →

About CYP17A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

View all CYP17A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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