Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
dbSNP: rs121909231
rs121909231
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
T 0.700 CausalMutation CLINVAR
dbSNP: rs1224040268
rs1224040268
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
A 0.700 CausalMutation CLINVAR
dbSNP: rs370795352
rs370795352
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs863224909
rs863224909
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus
G 0.700 CausalMutation CLINVAR