rs869320765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CT) | 3 | Carrier of a premature ovarian failure mutation |
Make rs869320765(CT;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 100200856 |
Gene | GATS, STAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320765 |
dbSNP (classic) | rs869320765 |
ClinGen | rs869320765 |
ebi | rs869320765 |
HLI | rs869320765 |
Exac | rs869320765 |
Gnomad | rs869320765 |
Varsome | rs869320765 |
LitVar | rs869320765 |
Map | rs869320765 |
PheGenI | rs869320765 |
Biobank | rs869320765 |
1000 genomes | rs869320765 |
hgdp | rs869320765 |
ensembl | rs869320765 |
geneview | rs869320765 |
scholar | rs869320765 |
rs869320765 | |
pharmgkb | rs869320765 |
gwascentral | rs869320765 |
openSNP | rs869320765 |
23andMe | rs869320765 |
SNPshot | rs869320765 |
SNPdbe | rs869320765 |
MSV3d | rs869320765 |
GWAS Ctlg | rs869320765 |
Max Magnitude | 3 |
c.1947_1948dupCT (p.Tyr650Serfs)
ClinVar | |
---|---|
Risk | rs869320765(CT;CT) |
Alt | rs869320765(CT;CT) |
Reference | Rs869320765(-;-) |
Significance | Pathogenic |
Disease | Premature ovarian failure 8 |
Variation | info |
Gene | STAG3 GATS |
CLNDBN | Premature ovarian failure 8 |
Reversed | 0 |
HGVS | NC_000007.13:g.99798478_99798479dupCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210481.1, |