FSHR Chromosome 2
Follicle stimulating hormone receptor
Upload your DNA to see your personal genotypes for variants in FSHR.
What This Gene Does
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]
Gene Info
Gene Group
Glycoprotein hormone receptors
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000170820
Associated Conditions (9)
Ovarian dysgenesis 1
Ovarian hyperstimulation syndrome
FSHR-related disorder
Inborn genetic diseases
Gonadal dysgenesis
Genetic non-acquired premature ovarian failure
Dizygotic twins
Hereditary xanthinuria type 1
Amenorrhea
Key Variants
RS111883853
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, FSHR-related disorder
Health Risk
RS115030945
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
Health Risk
RS117897604
Conflicting classifications of pathogenicity
Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
Health Risk
RS121909659
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
Health Risk
RS139226976
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
Health Risk
RS142383710
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Inborn genetic diseases
Health Risk
RS150863050
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
Health Risk
RS200504733
Conflicting classifications of pathogenicity
Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, FSHR-related disorder
Health Risk
RS202162496
Conflicting classifications of pathogenicity
Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Gonadal dysgenesis
Health Risk
RS6167
Conflicting classifications of pathogenicity
Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
Health Risk
RS1411985137
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS1674297842
Likely pathogenic
Ovarian dysgenesis 1, Ovarian dysgenesis 1
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111883853 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, FSHR-related disorder |
| RS115030945 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1 |
| RS117897604 | Health Risk | Conflicting classifications of pathogenicity | Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome |
| RS121909659 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1 |
| RS139226976 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1 |
| RS142383710 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Inborn genetic diseases |
| RS150863050 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1 |
| RS200504733 | Health Risk | Conflicting classifications of pathogenicity | Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, FSHR-related disorder |
| RS202162496 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Gonadal dysgenesis |
| RS6167 | Health Risk | Conflicting classifications of pathogenicity | Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome |
| RS1411985137 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1674297842 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS1674323340 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS1674341013 | Health Risk | Likely pathogenic | Dizygotic twins, Hereditary xanthinuria type 1, Dizygotic twins |
| RS2103990288 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2103991776 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2103994032 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS371482817 | Health Risk | Likely pathogenic | — |
| RS386833510 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS386833511 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS386833513 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS386833514 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS386833515 | Health Risk | Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS776897994 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS121909658 | Health Risk | Pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS121909660 | Health Risk | Pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS121909661 | Health Risk | Pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS121909662 | Health Risk | Pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |
| RS121909663 | Health Risk | Pathogenic | Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome |
| RS121909664 | Health Risk | Pathogenic | Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome |
| RS121909665 | Health Risk | Pathogenic | Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome |
| RS2103990623 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2104211236 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS28928870 | Health Risk | Pathogenic | Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome |
| RS28928871 | Health Risk | Pathogenic | Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome |
| RS777165286 | Health Risk | Pathogenic | — |
| RS955385021 | Health Risk | Pathogenic | Amenorrhea, Amenorrhea |
| RS386833512 | Health Risk | Pathogenic/Likely pathogenic | Ovarian dysgenesis 1, Ovarian dysgenesis 1 |