rs757498880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs757498880(A;G) |
Make rs757498880(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87952152 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs757498880 |
dbSNP (classic) | rs757498880 |
ClinGen | rs757498880 |
ebi | rs757498880 |
HLI | rs757498880 |
Exac | rs757498880 |
Gnomad | rs757498880 |
Varsome | rs757498880 |
LitVar | rs757498880 |
Map | rs757498880 |
PheGenI | rs757498880 |
Biobank | rs757498880 |
1000 genomes | rs757498880 |
hgdp | rs757498880 |
ensembl | rs757498880 |
geneview | rs757498880 |
scholar | rs757498880 |
rs757498880 | |
pharmgkb | rs757498880 |
gwascentral | rs757498880 |
openSNP | rs757498880 |
23andMe | rs757498880 |
SNPshot | rs757498880 |
SNPdbe | rs757498880 |
MSV3d | rs757498880 |
GWAS Ctlg | rs757498880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757498880(G;G) |
Alt | rs757498880(G;G) |
Reference | Rs757498880(A;A) |
Significance | Pathogenic |
Disease | Tumor susceptibility linked to germline BAP1 mutations PTEN hamartoma tumor syndrome not specified |
Variation | info |
Gene | PTEN |
CLNDBN | Tumor susceptibility linked to germline BAP1 mutations PTEN hamartoma tumor syndrome not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.89711909A>G |
CLNSRC | |
CLNACC | RCV000165029.1, RCV000470284.1, RCV000482161.1, |