rs11031005

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GWAS Catalog Trait Associations (11)

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

uterine fibroid, age at menopause

Xiao C et al. “Genetic contribution of reproductive traits to risk of uterine leiomyomata: a large-scale, genome-wide, cross-trait analysis.” American Journal of Obstetrics and Gynecology 230(4):438.e1-438.e15 (2024)
Allele T
OR —
p 2.0e-41
N 504,302
Large GWAS
European

endometriosis

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele T
OR 1.21
p 2.0e-32
N 233,257
Large GWAS
European

Ovarian cyst

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele T
OR 1.16
p 4.0e-32
N 232,058
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 0.11
p 2.0e-8
N 301,230
Large GWAS
multi-ancestry

follicle stimulating hormone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele C
OR 0.10
p 1.0e-29
N 57,890
Large GWAS
European, South Asian

Menorrhagia

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele T
OR 1.11
p 3.0e-24
N 249,874
Large GWAS
European

positive regulation of ovulation

Mbarek H et al. “Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.” Human Reproduction (oxford, England) 39(1):240-257 (2024)
Allele T
OR 0.16
p 2.0e-22
N 716,517
Meta-analysisLarge GWAS
European

uterine fibroid, age at menarche

Xiao C et al. “Genetic contribution of reproductive traits to risk of uterine leiomyomata: a large-scale, genome-wide, cross-trait analysis.” American Journal of Obstetrics and Gynecology 230(4):438.e1-438.e15 (2024)
Allele T
OR —
p 8.0e-20
N 632,324
Large GWAS
European

polycystic ovary syndrome

Day F et al. “Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.” Plos Genetics 14(12):e1007813 (2018)
Allele T
OR 0.16
p 9.0e-13
N 113,238
Meta-analysisLarge GWAS
European

migraine disorder, endometriosis

Adewuyi EO et al. “Shared Molecular Genetic Mechanisms Underlie Endometriosis and Migraine Comorbidity.” Genes 11(3) (2020)
Allele T
OR 1.08
p 1.0e-8
N 411,051
Large GWAS
multi-ancestry

hormone measurement, follicle stimulating hormone measurement

Ruth KS et al. “Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.” European Journal of Human Genetics : Ejhg 24(2):284-90 (2016)
Allele C
OR 0.23
p 2.0e-8
N 2,913
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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