rs398123316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123316(A;T) |
Make rs398123316(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87925530 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs398123316 |
dbSNP (classic) | rs398123316 |
ClinGen | rs398123316 |
ebi | rs398123316 |
HLI | rs398123316 |
Exac | rs398123316 |
Gnomad | rs398123316 |
Varsome | rs398123316 |
LitVar | rs398123316 |
Map | rs398123316 |
PheGenI | rs398123316 |
Biobank | rs398123316 |
1000 genomes | rs398123316 |
hgdp | rs398123316 |
ensembl | rs398123316 |
geneview | rs398123316 |
scholar | rs398123316 |
rs398123316 | |
pharmgkb | rs398123316 |
gwascentral | rs398123316 |
openSNP | rs398123316 |
23andMe | rs398123316 |
SNPshot | rs398123316 |
SNPdbe | rs398123316 |
MSV3d | rs398123316 |
GWAS Ctlg | rs398123316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123316(G;G) rs398123316(T;T) |
Alt | rs398123316(G;G) rs398123316(T;T) |
Reference | Rs398123316(A;A) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89685287A>G; NC_000010.10:g.89685287A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000490582.1, RCV000491953.1, RCV000078607.3, |