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.