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.