Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909238
rs121909238
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015

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

2015

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

2015

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

2015

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

2015

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

2012

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

2012

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

2012

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

2012

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

2012

dbSNP: rs121909238
rs121909238
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: rs121909239
rs121909239
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
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
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
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
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909239
rs121909239
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909240
rs121909240
C 0.800 CausalMutation CLINVAR

dbSNP: rs397514559
rs397514559
A 0.800 CausalMutation CLINVAR

dbSNP: rs397514560
rs397514560
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519368
rs1057519368
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: rs121909227
rs121909227
T 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017

dbSNP: rs121913293
rs121913293
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017

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

2016

dbSNP: rs121909227
rs121909227
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015