rs701848
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs701848(C;C) |
| Make rs701848(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 87966988 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs701848 |
| dbSNP (classic) | rs701848 |
| ClinGen | rs701848 |
| ebi | rs701848 |
| HLI | rs701848 |
| Exac | rs701848 |
| Gnomad | rs701848 |
| Varsome | rs701848 |
| LitVar | rs701848 |
| Map | rs701848 |
| PheGenI | rs701848 |
| Biobank | rs701848 |
| 1000 genomes | rs701848 |
| hgdp | rs701848 |
| ensembl | rs701848 |
| geneview | rs701848 |
| scholar | rs701848 |
| rs701848 | |
| pharmgkb | rs701848 |
| gwascentral | rs701848 |
| openSNP | rs701848 |
| 23andMe | rs701848 |
| SNPshot | rs701848 |
| SNPdbe | rs701848 |
| MSV3d | rs701848 |
| GWAS Ctlg | rs701848 |
| GMAF | 0.3416 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19625176
] PTEN identified as important risk factor of chronic obstructive pulmonary disease
[PMID 21138334] Association of PTEN Polymorphisms with Susceptibility to Hepatocellular Carcinoma in a Chinese Han Population
[PMID 17033968] Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19237173] Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.
[PMID 22336889] Association of genetic polymorphisms in MDM2, PTEN and P53 with risk of esophageal squamous cell carcinoma.
[PMID 23209702] A Functional Variant in the MTOR Promoter Modulates Its Expression and Is Associated with Renal Cell Cancer Risk
[PMID 26541596] Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population
| ClinVar | |
|---|---|
| Risk | rs701848(C;C) |
| Alt | rs701848(C;C) |
| Reference | Rs701848(T;T) |
| Significance | Non-pathogenic |
| Disease | PTEN hamartoma tumor syndrome |
| Variation | info |
| Gene | PTEN |
| CLNDBN | PTEN hamartoma tumor syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89726745T>C |
| CLNSRC | |
| CLNACC | RCV000301364.1, |
[PMID 29221206] Single nucleotide polymorphisms rs701848 and rs2735343 in PTEN increases cancer risks in an Asian population.
[PMID 29259266] Associations of genetic polymorphisms in pTEN/AKT/mTOR signaling pathway genes with cancer risk: A meta-analysis in Asian population.
