rs7052964
This is a regulatory region variant variant in the OPHN1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
testosterone 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 G
OR 0.04
p 3.0e-53
N 235,096
Large GWAS
European
Fantus RJ et al. “Genetic Susceptibility for Low Testosterone in Men and Its Implications in Biology and Screening: Data from the UK Biobank.” European Urology Open Science 29:36-46 (2021)
Allele G
OR 1.21
p 2.0e-19
N 111,676
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 0.03
p 3.0e-11
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 G
OR 0.05
p 5.0e-11
N 102,635
Major Consortium StudyLarge GWAS
European
About OPHN1
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
View all OPHN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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