RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
Disease: Mental Retardation, X-Linked 19 ×
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: rs122454129
rs122454129 		1.000 0.080 X 20175244 missense variant G/A snv
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 1999 2006
dbSNP: rs387906703
rs387906703 		1.000 0.080 X 20195128 missense variant T/A snv
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 1999 2006
dbSNP: rs144984628
rs144984628 		1.000 0.080 X 20155453 missense variant C/T snv 1.5E-03 1.3E-03
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555924331
rs1555924331 		0.925 0.080 X 20155436 missense variant G/A snv
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569190602
rs1569190602 		0.925 0.080 X 20161758 frameshift variant G/- del
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569216119
rs1569216119 		0.925 0.080 X 20187953 missense variant C/T snv
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs398122813
rs398122813 		1.000 0.080 X 20194215 inframe deletion TCC/- delins
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045920
rs797045920 		1.000 0.080 X 20172792 frameshift variant AACA/- delins
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs869320705
rs869320705 		0.925 0.080 X 20177017 stop gained G/A snv
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0