| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor. | 25581598 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. | 24058690 | 2013 |
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|
0.810 | GeneticVariation | UNIPROT | Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. | 17721928 | 2008 |
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|
0.810 | GeneticVariation | BEFREE | Ninety-one ART patients with OHSS, eighty-eight ART patients without OHSS and ninety-seven women with assumed normal fecundity were analysed for the FSHR single nucleotide polymorphism (SNP) gene variations Asn680Ser (rs6166), Ala189Val, Ile160Thr, Thr449Ile (rs28928870) and the CYP19A1 rs10046 locus using real-time PCR. | 18159088 | 2008 |
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|
0.810 | GeneticVariation | UNIPROT | Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. | 16278261 | 2006 |
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|
0.810 | GeneticVariation | UNIPROT | A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. | 15080154 | 2004 |
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|
0.810 | GeneticVariation | UNIPROT | Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. | 12930928 | 2003 |
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|
0.810 | GeneticVariation | UNIPROT | A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. | 12930927 | 2003 |
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|
A | 0.810 | CausalMutation | CLINVAR |