Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782341
rs587782341
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		TA 0.700 CausalMutation CLINVAR Autosomal Dominant Inherited Cowden's Disease in a Family. 23423780

2013
dbSNP: rs587782341
rs587782341
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		TA 0.700 CausalMutation CLINVAR Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. 15372512

2004