PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		A 0.820 CausalMutation CLINVAR
dbSNP: rs587782350
rs587782350
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1060500126
rs1060500126
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs121909221
rs121909221
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909222
rs121909222
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909225
rs121909225
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909226
rs121909226
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909229
rs121909229
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909233
rs121909233
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation UNIPROT
dbSNP: rs121909233
rs121909233
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0025202
Disease:
melanoma 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909234
rs121909234
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation UNIPROT
dbSNP: rs121909234
rs121909234
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0025202
Disease:
melanoma 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909237
rs121909237
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909238
rs121909238
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909239
rs121909239
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909240
rs121909240
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514559
rs397514559
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514560
rs397514560
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs398123317
rs398123317
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs1057517809
rs1057517809
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0919267
Disease:
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517809
rs1057517809
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057517809
rs1057517809
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519368
rs1057519368
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519368
rs1057519368
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR