Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434614
rs121434614
PAK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation BEFREE We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene (Xq22.3-q23), W446S. 17853471

2007