rs6165
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6165(A;A) |
| Make rs6165(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 48963902 |
| Gene | FSHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6165 |
| dbSNP (classic) | rs6165 |
| ClinGen | rs6165 |
| ebi | rs6165 |
| HLI | rs6165 |
| Exac | rs6165 |
| Gnomad | rs6165 |
| Varsome | rs6165 |
| LitVar | rs6165 |
| Map | rs6165 |
| PheGenI | rs6165 |
| Biobank | rs6165 |
| 1000 genomes | rs6165 |
| hgdp | rs6165 |
| ensembl | rs6165 |
| geneview | rs6165 |
| scholar | rs6165 |
| rs6165 | |
| pharmgkb | rs6165 |
| gwascentral | rs6165 |
| openSNP | rs6165 |
| 23andMe | rs6165 |
| SNPshot | rs6165 |
| SNPdbe | rs6165 |
| MSV3d | rs6165 |
| GWAS Ctlg | rs6165 |
| GMAF | 0.4858 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs6165(A;A) rs6165(C;C) |
| Alt | rs6165(A;A) rs6165(C;C) |
| Reference | Rs6165(G;G) |
| Significance | Drug-response |
| Disease | Ovarian response to FSH stimulation not specified Ovarian Dysgenesis Ovarian hyperstimulation syndrome |
| Variation | info |
| Gene | FSHR |
| CLNDBN | Ovarian response to FSH stimulation not specified Ovarian Dysgenesis Ovarian hyperstimulation syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.49191041C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017633.3, RCV000252249.1, RCV000299214.1, RCV000356409.1, |
[PMID 18603647
] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19147210] The haplotype of two FSHR polymorphisms in ovarian cancer--a potential role of ethnology in risk modification.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 19403562] Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.
[PMID 20399696] Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome.
[PMID 23139742] Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes
[PMID 23413141] Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume
[PMID 22414334] Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis.
[PMID 25241129] Genotyping common FSHR polymorphisms based on competitive amplification of differentially melting amplicons (CADMA)
[PMID 28547204] FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome.
[PMID 28764642] The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.
