PTEN, phosphatase and tensin homolog, 5728

N. diseases: 182; N. variants: 355
Disease: GLIOMA SUSCEPTIBILITY 2 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909235
rs121909235
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		0.700 GeneticVariation UNIPROT A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 12085208 2002
dbSNP: rs121909231
rs121909231
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1224040268
rs1224040268
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs370795352
rs370795352
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs863224909
rs863224909
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2751642
Disease:
GLIOMA SUSCEPTIBILITY 2 		G 0.700 CausalMutation CLINVAR