Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909222
rs121909222
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		G 0.700 GeneticVariation CLINVAR Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 10234502

1999
dbSNP: rs121909222
rs121909222
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR