rs6258

This is a variant in the SHBG gene that changes a proline to an leucine.

▶

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 C
OR 0.61
p —
N 180,094
Large GWAS
European
Coviello AD et al. “A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.” Plos Genetics 8(7):e1002805 (2012)
Allele C
OR 0.27
p 3.0e-46
N 21,791
Meta-analysisLarge GWAS
European

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 C
OR 0.72
p —
N 194,453
Large GWAS
European
Ohlsson C et al. “Genetic determinants of serum testosterone concentrations in men.” Plos Genetics 7(10):e1002313 (2011)
Allele C
OR 82.30
p 2.0e-22
N 8,938
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.05
p 4.0e-43
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele C
OR 0.09
p 1.0e-14
N 426,824
Large GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…