rs386833510
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386833510(C;G) |
Make rs386833510(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 48963778 |
Gene | FSHR |
is a | snp |
is | mentioned by |
dbSNP | rs386833510 |
dbSNP (classic) | rs386833510 |
ClinGen | rs386833510 |
ebi | rs386833510 |
HLI | rs386833510 |
Exac | rs386833510 |
Gnomad | rs386833510 |
Varsome | rs386833510 |
LitVar | rs386833510 |
Map | rs386833510 |
PheGenI | rs386833510 |
Biobank | rs386833510 |
1000 genomes | rs386833510 |
hgdp | rs386833510 |
ensembl | rs386833510 |
geneview | rs386833510 |
scholar | rs386833510 |
rs386833510 | |
pharmgkb | rs386833510 |
gwascentral | rs386833510 |
openSNP | rs386833510 |
23andMe | rs386833510 |
SNPshot | rs386833510 |
SNPdbe | rs386833510 |
MSV3d | rs386833510 |
GWAS Ctlg | rs386833510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833510(G;G) |
Alt | rs386833510(G;G) |
Reference | Rs386833510(C;C) |
Significance | Probable-Pathogenic |
Disease | Ovarian dysgenesis 1 |
Variation | info |
Gene | FSHR |
CLNDBN | Ovarian dysgenesis 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.49190917G>C |
CLNSRC | ClinVar |
CLNACC | RCV000049439.1, |
[PMID 12571157] A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.