rs371387815
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.3 | Hereditary cancer predisposing syndrome |
Make rs371387815(C;G) |
Make rs371387815(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87960984 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs371387815 |
dbSNP (classic) | rs371387815 |
ClinGen | rs371387815 |
ebi | rs371387815 |
HLI | rs371387815 |
Exac | rs371387815 |
Gnomad | rs371387815 |
Varsome | rs371387815 |
LitVar | rs371387815 |
Map | rs371387815 |
PheGenI | rs371387815 |
Biobank | rs371387815 |
1000 genomes | rs371387815 |
hgdp | rs371387815 |
ensembl | rs371387815 |
geneview | rs371387815 |
scholar | rs371387815 |
rs371387815 | |
pharmgkb | rs371387815 |
gwascentral | rs371387815 |
openSNP | rs371387815 |
23andMe | rs371387815 |
SNPshot | rs371387815 |
SNPdbe | rs371387815 |
MSV3d | rs371387815 |
GWAS Ctlg | rs371387815 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs371387815(G;G) rs371387815(T;T) |
Alt | rs371387815(G;G) rs371387815(T;T) |
Reference | Rs371387815(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified not provided |
Variation | info |
Gene | PTEN |
CLNDBN | Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89720741C>G; NC_000010.10:g.89720741C>T |
CLNSRC | |
CLNACC | RCV000115590.5, RCV000148765.1, RCV000199677.2, RCV000212885.2, RCV000167405.1, RCV000315739.1, |