Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514705
rs397514705
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
0.800 GeneticVariation UNIPROT SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 24132240 2013
dbSNP: rs397514705
rs397514705
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
0.800 GeneticVariation UNIPROT Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 22892527 2013
dbSNP: rs397514705
rs397514705
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
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
dbSNP: rs387906933
rs387906933
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3151380
Disease:
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
dbSNP: rs387906933
rs387906933
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3151380
Disease:
SCHIZOPHRENIA 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs397514705
rs397514705
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs1555910143
rs1555910143
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1510586
Disease:
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
dbSNP: rs5770820
rs5770820
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0021704
Disease:
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
dbSNP: rs5770820
rs5770820
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals. 29520040 2019
dbSNP: rs762292772
rs762292772
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1510586
Disease:
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
dbSNP: rs9616914
rs9616914
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs9616914
rs9616914
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs7286601
rs7286601
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0596887
Disease:
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
dbSNP: rs9616914
rs9616914
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0596887
Disease:
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
dbSNP: rs9616946
rs9616946
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs75347843
rs75347843
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0337428
Disease:
Fibrinogen assay
0.700 GeneticVariation GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
dbSNP: rs75347843
rs75347843
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0337428
Disease:
Fibrinogen assay
A 0.700 GeneticVariation GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
dbSNP: rs762292772
rs762292772
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1510586
Disease:
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
dbSNP: rs762292772
rs762292772
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0018817
Disease:
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
dbSNP: rs762292772
rs762292772
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1862389
Disease:
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
dbSNP: rs1057519395
rs1057519395
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1843367
Disease:
Poor school performance
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519395
rs1057519395
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519406
rs1057519406
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519406
rs1057519406
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1843367
Disease:
Poor school performance
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1396379503
rs1396379503
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome
A 0.700 CausalMutation CLINVAR