RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
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: rs122454131
rs122454131 		1.000 0.080 X 20186338 missense variant A/G snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 6 1996 2004
dbSNP: rs122454124
rs122454124 		1.000 0.080 X 20209307 missense variant C/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
dbSNP: rs122454125
rs122454125 		1.000 0.080 X 20187923 missense variant A/C snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
dbSNP: rs122454126
rs122454126 		1.000 0.080 X 20204103 missense variant C/A;T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
dbSNP: rs122454127
rs122454127 		1.000 0.080 X 20195131 missense variant G/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
dbSNP: rs122454130
rs122454130 		1.000 0.080 X 20193514 missense variant A/T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
dbSNP: rs28935171
rs28935171 		1.000 0.080 X 20155435 missense variant C/T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1996 2004
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: rs869320705
rs869320705 		0.925 0.080 X 20177017 stop gained G/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs1555927554
rs1555927554 		1.000 X 20164964 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2001 2015
dbSNP: rs1555927554
rs1555927554 		1.000 X 20164964 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2015
dbSNP: rs1555939377
rs1555939377 		1.000 X 20187890 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2001 2015
dbSNP: rs1555939377
rs1555939377 		1.000 X 20187890 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2015
dbSNP: rs1555943503
rs1555943503 		1.000 X 20195156 intron variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2015
dbSNP: rs1555943503
rs1555943503 		1.000 X 20195156 intron variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2001 2015
dbSNP: rs879027948
rs879027948 		1.000 0.080 X 20187928 missense variant G/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 1996 2004
dbSNP: rs398124177
rs398124177 		1.000 0.080 X 20187971 splice acceptor variant C/G;T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1057518853
rs1057518853 		0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518853
rs1057518853 		0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518853
rs1057518853 		0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0