rs1336089966, SHANK3

N. diseases: 1
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
0.010 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