rs1394205
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1394205(A;A) |
| Make rs1394205(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 49154446 |
| Gene | FSHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1394205 |
| dbSNP (classic) | rs1394205 |
| ClinGen | rs1394205 |
| ebi | rs1394205 |
| HLI | rs1394205 |
| Exac | rs1394205 |
| Gnomad | rs1394205 |
| Varsome | rs1394205 |
| LitVar | rs1394205 |
| Map | rs1394205 |
| PheGenI | rs1394205 |
| Biobank | rs1394205 |
| 1000 genomes | rs1394205 |
| hgdp | rs1394205 |
| ensembl | rs1394205 |
| geneview | rs1394205 |
| scholar | rs1394205 |
| rs1394205 | |
| pharmgkb | rs1394205 |
| gwascentral | rs1394205 |
| openSNP | rs1394205 |
| 23andMe | rs1394205 |
| SNPshot | rs1394205 |
| SNPdbe | rs1394205 |
| MSV3d | rs1394205 |
| GWAS Ctlg | rs1394205 |
| GMAF | 0.3604 |
| Max Magnitude | 0 |
aka c.-29G>A
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20335500] FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women
[PMID 16864747] Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension.
[PMID 18413494
] Hereditary determinants of human hypertension: strategies in the setting of genetic complexity.
[PMID 22414334] Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis.
[PMID 25052309] The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
[PMID 25492410] Ovarian hyperstimulation syndrome in a spontaneous pregnancy with invasive mole
| ClinVar | |
|---|---|
| Risk | rs1394205(A;A) |
| Alt | rs1394205(A;A) |
| Reference | Rs1394205(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Ovarian hyperstimulation syndrome Ovarian Dysgenesis |
| Variation | info |
| Gene | FSHR |
| CLNDBN | not specified Ovarian hyperstimulation syndrome Ovarian Dysgenesis |
| Reversed | 1 |
| HGVS | NC_000002.11:g.49381585C>T |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000125157.2, RCV000308694.1, RCV000407626.1, |
[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.
