Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294642759
rs1294642759
FOXP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation BEFREE We detected a novel de novo missense mutation (NM_001244815: c.G1444A, p.E482K) of FOXP1 in a patient with intellectual disability and severe speech delay. 31199603

2019