rs386833514
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386833514(G;G) |
Make rs386833514(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 48982918 |
Gene | FSHR |
is a | snp |
is | mentioned by |
dbSNP | rs386833514 |
dbSNP (classic) | rs386833514 |
ClinGen | rs386833514 |
ebi | rs386833514 |
HLI | rs386833514 |
Exac | rs386833514 |
Gnomad | rs386833514 |
Varsome | rs386833514 |
LitVar | rs386833514 |
Map | rs386833514 |
PheGenI | rs386833514 |
Biobank | rs386833514 |
1000 genomes | rs386833514 |
hgdp | rs386833514 |
ensembl | rs386833514 |
geneview | rs386833514 |
scholar | rs386833514 |
rs386833514 | |
pharmgkb | rs386833514 |
gwascentral | rs386833514 |
openSNP | rs386833514 |
23andMe | rs386833514 |
SNPshot | rs386833514 |
SNPdbe | rs386833514 |
MSV3d | rs386833514 |
GWAS Ctlg | rs386833514 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833514(G;G) |
Alt | rs386833514(G;G) |
Reference | Rs386833514(T;T) |
Significance | Probable-Pathogenic |
Disease | Ovarian dysgenesis 1 |
Variation | info |
Gene | FSHR |
CLNDBN | Ovarian dysgenesis 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.49210057A>C |
CLNSRC | ClinVar |
CLNACC | RCV000049442.1, |
[PMID 19172541] A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.