rs121913289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6.3 | PTEN hamartoma tumor syndrome |
(A;A) | 0 | common in clinvar |
Make rs121913289(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87958018 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121913289 |
dbSNP (classic) | rs121913289 |
ClinGen | rs121913289 |
ebi | rs121913289 |
HLI | rs121913289 |
Exac | rs121913289 |
Gnomad | rs121913289 |
Varsome | rs121913289 |
LitVar | rs121913289 |
Map | rs121913289 |
PheGenI | rs121913289 |
Biobank | rs121913289 |
1000 genomes | rs121913289 |
hgdp | rs121913289 |
ensembl | rs121913289 |
geneview | rs121913289 |
scholar | rs121913289 |
rs121913289 | |
pharmgkb | rs121913289 |
gwascentral | rs121913289 |
openSNP | rs121913289 |
23andMe | rs121913289 |
SNPshot | rs121913289 |
SNPdbe | rs121913289 |
MSV3d | rs121913289 |
GWAS Ctlg | rs121913289 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121913289(-;-) |
Alt | rs121913289(-;-) |
Reference | Rs121913289(A;A) |
Significance | Pathogenic |
Disease | not provided PTEN hamartoma tumor syndrome Colorectal Neoplasms Neoplasm of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | not provided PTEN hamartoma tumor syndrome Colorectal Neoplasms Neoplasm of breast Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89717775delA |
CLNSRC | HGMD |
CLNACC | RCV000078622.3, RCV000231858.1, RCV000419293.1, RCV000426937.1, RCV000491764.1, |