Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018
dbSNP: rs1057519724
rs1057519724
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016