Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767058690
rs767058690
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1510586
Disease:
Autism Spectrum Disorders
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