rs2899472

This is a regulatory region variant variant in the CYP19A1 gene.

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GWAS Catalog Trait Associations (5)

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

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele C
OR 0.03
p 2.0e-28
N 426,824
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 2.0e-24
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

estrone measurement

Eriksson AL et al. “Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men.” The Journal of Clinical Endocrinology and Metabolism 103(3):991-1004 (2018)
Allele A
OR 2.41
p 6.0e-23
N 7,570
Large GWAS
European

uterine cancer

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.14
p 9.0e-12
N 692,891
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Association
1 submitter

Pulmonary disease, chronic obstructive, susceptibility to

View on ClinVar →
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Research that mentions this SNP (1)

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Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families
AssociationN=1,873Tie-Lin Yang et al.(2006)· Human Genetics

This family-based association study examined CYP19 gene polymorphisms and their relationship with adult height in 1,873 Caucasian subjects from 405 nuclear families. Using QTDT and FBAT analyses, the authors found SNP rs730154 significantly associated with height (QTDT P=0.0030, FBAT P=0.0016), with the strongest associations observed in female subjects. Haplotype analysis corroborated these findings, showing that haplotypes in block 4 containing rs730154 were significantly associated with height variation, suggesting CYP19 may influence adult height through estrogen-related pathways.

Traits studied:Adult height variationHeight
PubMedDOIMetascience Observatory

About CYP19A1

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 and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

View all CYP19A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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