rs1994721

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GWAS Catalog Trait Associations (3)

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

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.03
p 6.0e-33
N 382,988
Large GWAS
European
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 G
OR 0.04
p 3.0e-31
N 243,951
Large GWAS
European, South Asian
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele G
OR 0.18
p 7.0e-13
N 148,248
Major Consortium StudyLarge GWAS
European
Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele G
OR 0.04
p 3.0e-8
N 95,184
Major Consortium StudyLarge GWAS
European

hypogonadism

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele A
OR 0.07
p 4.0e-8
N 102,635
Major Consortium StudyLarge 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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