rs762292772, SHANK3

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
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
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
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
ATRIAL SEPTAL DEFECT 1
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
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
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
0.700 CausalMutation CLINVAR
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
0.700 CausalMutation CLINVAR