rs1799941

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

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GWAS Catalog Trait Associations (4)

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

sex hormone-binding globulin 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 A
OR 0.12
p —
N 180,094
Large 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 A
OR 0.23
p 5.0e-86
N 19,405
Major Consortium StudyLarge GWAS
multi-ancestry
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.20
p 4.0e-48
N 10,708
Large GWAS
European
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.24
p 4.0e-30
N 5,366
Large 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 G
OR 0.24
p 1.0e-136
N 145,389
Major Consortium StudyLarge GWAS
multi-ancestry

testosterone measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 2.0e-294
N 394,642
Large GWAS
European
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 A
OR 0.06
p 5.0e-169
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 A
OR 0.03
p 7.0e-22
N 235,579
Large GWAS
European
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 A
OR 0.76
p 1.0e-300
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 A
OR 0.15
p 7.0e-219
N 137,984
Major Consortium StudyLarge GWAS
multi-ancestry

About SHBG

This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all SHBG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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