rs587777267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a premature ovarian failure mutation |
(C;C) | 0 | common in clinvar |
Make rs587777267(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 100188862 |
Gene | GATS, STAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777267 |
dbSNP (classic) | rs587777267 |
ClinGen | rs587777267 |
ebi | rs587777267 |
HLI | rs587777267 |
Exac | rs587777267 |
Gnomad | rs587777267 |
Varsome | rs587777267 |
LitVar | rs587777267 |
Map | rs587777267 |
PheGenI | rs587777267 |
Biobank | rs587777267 |
1000 genomes | rs587777267 |
hgdp | rs587777267 |
ensembl | rs587777267 |
geneview | rs587777267 |
scholar | rs587777267 |
rs587777267 | |
pharmgkb | rs587777267 |
gwascentral | rs587777267 |
openSNP | rs587777267 |
23andMe | rs587777267 |
SNPshot | rs587777267 |
SNPdbe | rs587777267 |
MSV3d | rs587777267 |
GWAS Ctlg | rs587777267 |
Max Magnitude | 3 |
c.561delC (p.Gln188Argfs)
ClinVar | |
---|---|
Risk | rs587777267(-;-) |
Alt | rs587777267(-;-) |
Reference | Rs587777267(C;C) |
Significance | Pathogenic |
Disease | Premature ovarian failure 8 |
Variation | info |
Gene | STAG3 |
CLNDBN | Premature ovarian failure 8 |
Reversed | 0 |
HGVS | NC_000007.13:g.99786485delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114367.4, |