rs12037376

This is a intron variant variant in the WNT4 gene.

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GWAS Catalog Trait Associations (6)

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

gestational age

Solé-Navais P et al. “Genetic effects on the timing of parturition and links to fetal birth weight.” Nature Genetics 55(4):559-567 (2023)
Allele G
OR 0.60
p 2.0e-24
N 195,555
Large GWAS
European

endometriosis

Sapkota Y et al. “Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.” Nature Communications 8:15539 (2017)
Allele A
OR 1.16
p 9.0e-17
N 208,903
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

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 A
OR 0.03
p 2.0e-9
N 186,825
Major Consortium StudyLarge GWAS
European

female infertility

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 G
OR 0.90
p 7.0e-9
N 229,752
Large GWAS
European

uterine fibroid

Rafnar T et al. “Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.” Nature Communications 9(1):3636 (2018)
Allele A
OR 1.15
p 4.0e-8
N 539,925
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 A
OR 0.03
p 5.0e-10
N 186,825
Major Consortium StudyLarge GWAS
European

About WNT4

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]

View all WNT4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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