Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		A 0.700 CausalMutation CLINVAR