Gene: SHANK3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555910143
rs1555910143
SHANK3
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: rs762292772
rs762292772
SHANK3
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: rs762292772
rs762292772
SHANK3
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: rs6010065
rs6010065
SHANK3
0.010 GeneticVariation BEFREE Genotyping in a clinical cohort within one of these promoters (<i>SHANK3</i> promoter 6) revealed that the SNP rs6010065 was associated with ASD. 29339533

2018
dbSNP: rs767058690
rs767058690
SHANK3
0.010 GeneticVariation BEFREE The p.G1011V variant was the most interesting variant in our study; together with previous studies this variant has been identified in 4 out of 1,524 SCZ patients and in 4 out of 2,147 individuals with autism spectrum disorder (ASD), but not in 2468 European Sanger-sequenced controls. 28371232

2017
dbSNP: rs9616915
rs9616915
SHANK3
0.010 GeneticVariation BEFREE Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95% CI 0.359-0.942, P = 0.028). 24398551

2014
dbSNP: rs76224556
rs76224556
SHANK3
0.010 GeneticVariation BEFREE While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. 22892527

2013
dbSNP: rs1336089966
rs1336089966
SHANK3
0.010 GeneticVariation BEFREE Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. 21606927

2012
dbSNP: rs376862893
rs376862893
SHANK3
0.010 GeneticVariation BEFREE Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. 21606927

2012