PAK3, p21 (RAC1) activated kinase 3, 5063

N. diseases: 134; N. variants: 7
Disease: Mental Retardation, X-Linked 30 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434612
rs121434612 		1.000 0.080 X 111142119 missense variant C/T snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs121434613
rs121434613 		0.882 0.240 X 111194402 missense variant C/A snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs121434611
rs121434611 		1.000 0.080 X 111196488 stop gained C/T snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434614
rs121434614 		0.925 0.200 X 111196570 missense variant G/C snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569398769
rs1569398769 		1.000 0.080 X 111142200 splice region variant A/G snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs780775497
rs780775497 		1.000 0.080 X 111147758 stop gained C/A;T snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0