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, | 


