Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.100 | GeneticVariation | BEFREE | Findings of this study suggest a significant association between FSHR gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. | 28547204 | 2017 |
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0.100 | GeneticVariation | BEFREE | The Ala307Thr and Ser680Asn polymorphisms of FSHR are not associated with PCOS in Han ethnic Chinese women in north China. | 24390680 | 2014 |
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0.100 | GeneticVariation | BEFREE | The prevalence of Threonine307Threonine (TT), Threonine307Alanine (TA), and Alanine307Alanine (AA) genotypes at codon 307 was 53.0% (95% CI = 44.2-61.7%), 42.4% (95% CI = 34-51.3%), and 4.5% (95% CI = 1.9-10.1%) in controls; 52.6% (95% CI = 43.8-61.3%), 39.8% (95% CI = 31.6-48.7%), and 7.5% (95% CI = 3.9-13.7%) in PCOS women; and 50.4% (95% CI = 42.8-61.2%), 45.4% (95% CI = 34.9-53.1%), and 4.5% (95% CI = 1.5-9.6%) in anovulatory women without PCOS, respectively. | 25179311 | 2014 |
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0.100 | GeneticVariation | BEFREE | However, meta-analysis results showed no association between both FSHR Thr307Ala polymorphism and Asn680Ser polymorphism and susceptibility to PCOS. | 25218548 | 2014 |
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0.100 | GeneticVariation | BEFREE | Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. | 23536150 | 2013 |
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0.100 | GeneticVariation | BEFREE | The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH. | 21792664 | 2011 |
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0.100 | GeneticVariation | BEFREE | However, the two-marker haplotypes covering components Thr307Ala (rs6165) G and Asn680Ser (rs6166) A were observed to be significantly associated with PCOS (p=0.007, corrected p=0.042). | 20399696 | 2010 |
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0.100 | GeneticVariation | BEFREE | However, in case of Ala307Thr, the variant is negligible and is not associated with PC</span>OS (p=0.6963, OR=1.08). | 20514429 | 2010 |
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0.100 | GeneticVariation | BEFREE | All 50 women with PCOS harbored the A307T polymorphic variant, 56% harbored N680S, 30% S680S and 14% N680N polymorphisms. | 17259794 | 2006 |
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0.100 | GeneticVariation | BEFREE | Two known polymorphisms, Thr307Ala and Ser680Asn showed similar distributions of the allelic variations and protein isoforms in PCOS and normal control subjects (n = 236). | 11383926 | 2001 |