rs6165

This is a variant in the FSHR gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

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 0.01

p 6.0e-31

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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ClinVar annotation

Benign★★★☆

5 submitters4 publications

Ovarian dysgenesis 1 (ODG1); Ovarian hyperstimulation syndrome (OHSS); Ovarian response to FSH stimulation; not specified

View on ClinVar →

About FSHR

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

View all FSHR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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