rs121909225
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(G;T) | 6.3 | Cowden syndrome |
(T;T) | 0 | common in clinvar |
Make rs121909225(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87894049 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121909225 |
dbSNP (classic) | rs121909225 |
ClinGen | rs121909225 |
ebi | rs121909225 |
HLI | rs121909225 |
Exac | rs121909225 |
Gnomad | rs121909225 |
Varsome | rs121909225 |
LitVar | rs121909225 |
Map | rs121909225 |
PheGenI | rs121909225 |
Biobank | rs121909225 |
1000 genomes | rs121909225 |
hgdp | rs121909225 |
ensembl | rs121909225 |
geneview | rs121909225 |
scholar | rs121909225 |
rs121909225 | |
pharmgkb | rs121909225 |
gwascentral | rs121909225 |
openSNP | rs121909225 |
23andMe | rs121909225 |
SNPshot | rs121909225 |
SNPdbe | rs121909225 |
MSV3d | rs121909225 |
GWAS Ctlg | rs121909225 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121909225(C;C) rs121909225(G;G) |
Alt | rs121909225(C;C) rs121909225(G;G) |
Reference | Rs121909225(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Cowden syndrome 1 |
Variation | info |
Gene | PTEN |
CLNDBN | Hereditary cancer-predisposing syndrome Cowden syndrome 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.89653806T>C; NC_000010.10:g.89653806T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000491217.1, RCV000008271.3, |