rs28928870
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 |
| Make rs28928870(C;T) |
| Make rs28928870(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 48963475 |
| Gene | FSHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928870 |
| dbSNP (classic) | rs28928870 |
| ClinGen | rs28928870 |
| ebi | rs28928870 |
| HLI | rs28928870 |
| Exac | rs28928870 |
| Gnomad | rs28928870 |
| Varsome | rs28928870 |
| LitVar | rs28928870 |
| Map | rs28928870 |
| PheGenI | rs28928870 |
| Biobank | rs28928870 |
| 1000 genomes | rs28928870 |
| hgdp | rs28928870 |
| ensembl | rs28928870 |
| geneview | rs28928870 |
| scholar | rs28928870 |
| rs28928870 | |
| pharmgkb | rs28928870 |
| gwascentral | rs28928870 |
| openSNP | rs28928870 |
| 23andMe | rs28928870 |
| SNPshot | rs28928870 |
| SNPdbe | rs28928870 |
| MSV3d | rs28928870 |
| GWAS Ctlg | rs28928870 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28928870(A;A) rs28928870(T;T) |
| Alt | rs28928870(A;A) rs28928870(T;T) |
| Reference | Rs28928870(C;C) |
| Significance | Pathogenic |
| Disease | Ovarian hyperstimulation syndrome |
| Variation | info |
| Gene | FSHR |
| CLNDBN | Ovarian hyperstimulation syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.49190614G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017637.28, |
[PMID 18159088] Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
[PMID 22401810] Assessment of FSHR variants and antimullerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.
