rs121913292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.3 | Cowden syndrome |
(G;G) | 0 | common in clinvar |
Make rs121913292(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87933148 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121913292 |
dbSNP (classic) | rs121913292 |
ClinGen | rs121913292 |
ebi | rs121913292 |
HLI | rs121913292 |
Exac | rs121913292 |
Gnomad | rs121913292 |
Varsome | rs121913292 |
LitVar | rs121913292 |
Map | rs121913292 |
PheGenI | rs121913292 |
Biobank | rs121913292 |
1000 genomes | rs121913292 |
hgdp | rs121913292 |
ensembl | rs121913292 |
geneview | rs121913292 |
scholar | rs121913292 |
rs121913292 | |
pharmgkb | rs121913292 |
gwascentral | rs121913292 |
openSNP | rs121913292 |
23andMe | rs121913292 |
SNPshot | rs121913292 |
SNPdbe | rs121913292 |
MSV3d | rs121913292 |
GWAS Ctlg | rs121913292 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121913292(-;-) |
Alt | rs121913292(-;-) |
Reference | Rs121913292(G;G) |
Significance | Pathogenic |
Disease | Cowden syndrome 1 |
Variation | info |
Gene | PTEN |
CLNDBN | Cowden syndrome 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.89692905delG |
CLNSRC | |
CLNACC | RCV000172822.1, |