rs727504114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(G;T) | 6.3 | Hereditary cancer predisposing syndrome |
(T;T) | 0 | common in clinvar |
Make rs727504114(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87952261 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs727504114 |
dbSNP (classic) | rs727504114 |
ClinGen | rs727504114 |
ebi | rs727504114 |
HLI | rs727504114 |
Exac | rs727504114 |
Gnomad | rs727504114 |
Varsome | rs727504114 |
LitVar | rs727504114 |
Map | rs727504114 |
PheGenI | rs727504114 |
Biobank | rs727504114 |
1000 genomes | rs727504114 |
hgdp | rs727504114 |
ensembl | rs727504114 |
geneview | rs727504114 |
scholar | rs727504114 |
rs727504114 | |
pharmgkb | rs727504114 |
gwascentral | rs727504114 |
openSNP | rs727504114 |
23andMe | rs727504114 |
SNPshot | rs727504114 |
SNPdbe | rs727504114 |
MSV3d | rs727504114 |
GWAS Ctlg | rs727504114 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs727504114(G;G) |
Alt | rs727504114(G;G) |
Reference | Rs727504114(T;T) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89712018T>G |
CLNSRC | HGMD |
CLNACC | RCV000153791.3, RCV000491022.1, |