rs562015640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(A;T) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
Make rs562015640(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87960957 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs562015640 |
dbSNP (classic) | rs562015640 |
ClinGen | rs562015640 |
ebi | rs562015640 |
HLI | rs562015640 |
Exac | rs562015640 |
Gnomad | rs562015640 |
Varsome | rs562015640 |
LitVar | rs562015640 |
Map | rs562015640 |
PheGenI | rs562015640 |
Biobank | rs562015640 |
1000 genomes | rs562015640 |
hgdp | rs562015640 |
ensembl | rs562015640 |
geneview | rs562015640 |
scholar | rs562015640 |
rs562015640 | |
pharmgkb | rs562015640 |
gwascentral | rs562015640 |
openSNP | rs562015640 |
23andMe | rs562015640 |
SNPshot | rs562015640 |
SNPdbe | rs562015640 |
MSV3d | rs562015640 |
GWAS Ctlg | rs562015640 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs562015640(G;G) rs562015640(T;T) |
Alt | rs562015640(G;G) rs562015640(T;T) |
Reference | Rs562015640(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89720714A>G; NC_000010.10:g.89720714A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132384.4, RCV000491183.1, |