rs397514705
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
0.800
GeneticVariation
UNIPROT
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
24132240
2013
rs397514705
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
0.800
GeneticVariation
UNIPROT
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
22892527
2013
rs397514705
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
0.800
GeneticVariation
UNIPROT
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
23758760
2013
rs387906933
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
SCHIZOPHRENIA 15
0.800
GeneticVariation
UNIPROT
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
20385823
2010
rs387906933
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
SCHIZOPHRENIA 15
T
0.800
CausalMutation
CLINVAR
rs397514705
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
G
0.800
CausalMutation
CLINVAR
rs1555910143
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Autism Spectrum Disorders
C
0.700
CausalMutation
CLINVAR
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
30763456
2019
rs5770820
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Intelligence
A
0.700
GeneticVariation
GWASCAT
A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
29326435
2019
rs5770820
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Intelligence
A
0.700
GeneticVariation
GWASCAT
Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
29520040
2019
rs762292772
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Autism Spectrum Disorders
TG
0.700
CausalMutation
CLINVAR
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
30763456
2019
rs9616914
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Intelligence
0.700
GeneticVariation
GWASCAT
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
31374203
2019
rs9616914
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Schizophrenia
0.700
GeneticVariation
GWASCAT
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
31374203
2019
rs7286601
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
mathematical ability
T
0.700
GeneticVariation
GWASCAT
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
30038396
2018
rs9616914
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
mathematical ability
A
0.700
GeneticVariation
GWASCAT
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
30038396
2018
rs9616946
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Intelligence
0.700
GeneticVariation
GWASCAT
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
29844566
2018
rs75347843
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Fibrinogen assay
0.700
GeneticVariation
GWASCAT
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.
28107422
2017
rs75347843
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Fibrinogen assay
A
0.700
GeneticVariation
GWASCAT
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
26561523
2016
rs762292772
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Autism Spectrum Disorders
TG
0.700
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs762292772
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Atrial Septal Defects
TG
0.700
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs762292772
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
ATRIAL SEPTAL DEFECT 1
TG
0.700
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs1057519395
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Poor school performance
A
0.700
CausalMutation
CLINVAR
rs1057519395
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
A
0.700
CausalMutation
CLINVAR
rs1057519406
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
T
0.700
GeneticVariation
CLINVAR
rs1057519406
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Poor school performance
T
0.700
GeneticVariation
CLINVAR
rs1396379503
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
22q13.3 Deletion Syndrome
A
0.700
CausalMutation
CLINVAR