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: rs1555939456
rs1555939456 		0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555939456
rs1555939456 		0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		0.700 0
dbSNP: rs1555939456
rs1555939456 		0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.700 0
dbSNP: rs1555939456
rs1555939456 		0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4023791
Disease: Abnormality of the clivus
Abnormality of the clivus 		0.700 0
dbSNP: rs1555939456
rs1555939456 		0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
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: 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: 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: 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: 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: 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: rs1160828151
rs1160828151 		1.000 0.080 X 20172791 stop gained G/A;T snv 5.7E-06
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122454128
rs122454128 		1.000 0.080 X 20156144 stop gained G/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1325953089
rs1325953089 		1.000 0.080 X 20188499 missense variant G/A;T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		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: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555924704
rs1555924704 		1.000 0.080 X 20156245 frameshift variant A/- del
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555927532
rs1555927532 		1.000 0.080 X 20164901 missense variant C/G snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555939331
rs1555939331 		1.000 0.080 X 20187827 splice donor variant C/G snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0