rs6185

This variant is located in the GNRH1 gene.

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GWAS Catalog Trait Associations (2)

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

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 0.02

p 2.0e-15

N 426,824

Large GWAS

European

age at menopause

Horikoshi M et al. “Elucidating the genetic architecture of reproductive ageing in the Japanese population.” Nature Communications 9(1):1977 (2018)

Allele G

OR 0.19

p 3.0e-13

N 43,861

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters3 publications

Hypogonadotropic hypogonadism 12 with or without anosmia; not provided

View on ClinVar →

About GNRH1

This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]