rs17115100

This is a upstream gene variant variant in the CYP17A1 gene.

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GWAS Catalog Trait Associations (5)

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

systolic blood pressure

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 0.77
p 2.0e-16
N 275,793
Major Consortium StudyLarge GWAS
European

myocardial infarction

Hartiala JA et al. “Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.” European Heart Journal 42(9):919-933 (2021)
Allele G
OR 1.07
p 1.0e-9
N 639,221
Large GWAS
multi-ancestry

anxiety disorder

Friligkou E et al. “Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study.” Nature Genetics 56(10):2036-2045 (2024)
Allele G
OR 5.77
p 8.0e-9
N 1,266,780
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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CYP17 polymorphisms and prostate cancer outcomes
AssociationN=598Jonathan L. Wright et al.(2010)· The Prostate

A population-based cohort study of 598 Caucasian prostate cancer patients examined CYP17 gene polymorphisms in relation to prostate cancer-specific mortality (PCSM) and disease recurrence/progression. Men carrying the variant A allele in rs10883783 showed a 56% risk reduction in PCSM (HR 0.44, 95% CI 0.20-0.95) after median follow-up of 13.2 years with 44 observed deaths. No significant associations were found with disease recurrence/progression.

Traits studied:Prostate cancer recurrence/progressionProstate cancer survivalProstate cancer-specific mortality
PubMedDOIMetascience Observatory

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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