rs2414098

This variant is located in the CYP19A1 gene.

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GWAS Catalog Trait Associations (10)

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

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele T
OR 0.00
p 1.0e-19
N 437,438
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 3.0e-13
N 463,178
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 1.0e-16
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele T
OR 7.19
p 6.0e-13
N 390,964
Large GWAS
multi-ancestry

bone disease

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 0.06
p 9.0e-15
N 429,500
Major Consortium StudyLarge GWAS
European

endometrial endometrioid carcinoma

Cheng TH et al. “Five endometrial cancer risk loci identified through genome-wide association analysis.” Nature Genetics 48(6):667-674 (2016)
Allele C
OR 1.18
p 2.0e-13
N 11,626
Large GWAS
European

endometrial carcinoma

Cheng TH et al. “Five endometrial cancer risk loci identified through genome-wide association analysis.” Nature Genetics 48(6):667-674 (2016)
Allele C
OR 1.17
p 5.0e-13
N 11,756
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.02
p 2.0e-9
N 186,825
Major Consortium StudyLarge GWAS
European

trunk bone mineral density

Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele T
OR 0.05
p 5.0e-9
N 31,986
Large GWAS
European

bone tissue density

Medina-Gomez C et al. “Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.” American Journal of Human Genetics 102(1):88-102 (2018)
Allele T
OR —
β 0.033
p 2.0e-8
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele T
OR 0.05
p 3.0e-8
N 31,873
Large GWAS
European

spine bone mineral density

Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele T
OR 0.05
p 2.0e-9
N 31,986
Large GWAS
European

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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