Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112795301
rs112795301
FOXP1
0.020 GeneticVariation BEFREE FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. 30124790

2019
dbSNP: rs112795301
rs112795301
FOXP1
0.020 GeneticVariation BEFREE In addition, sequencing of all coding exons of FOXP1 in sporadic NSID (n = 110) or ASD (n = 135) cases, as well as in 570 controls, revealed the presence of a de novo nonsense mutation (c.1573C>T [p.R525X]) in the conserved forkhead DNA-binding domain in a patient with NSID and autism. 20950788

2010