Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909239
rs121909239
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909239
rs121909239
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs121909239
rs121909239
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs121909240
rs121909240
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909240
rs121909240
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs121909240
rs121909240
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs397514559
rs397514559
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs397514559
rs397514559
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs397514559
rs397514559
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs397514560
rs397514560
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs397514560
rs397514560
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs397514560
rs397514560
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs397514559
rs397514559
PTEN
A 0.800 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs370795352
rs370795352
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1564568303
rs1564568303
PTEN
AAG 0.700 GeneticVariation CLINVAR

dbSNP: rs121909240
rs121909240
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs1057519368
rs1057519368
PTEN
C 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs797045066
rs797045066
PTEN
CA 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs121909238
rs121909238
PTEN
G 0.800 CausalMutation CLINVAR