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: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1835884
Disease: Triangular face
Triangular face 		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: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.700 0
dbSNP: rs1057518914
rs1057518914 		0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		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: rs1271090915
rs1271090915 		1.000 0.080 X 20167743 missense variant T/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 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: 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: rs148050184
rs148050184 		1.000 0.080 X 20172853 missense variant T/C;G snv 4.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue 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: 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: rs1555928716
rs1555928716 		0.925 X 20167669 stop gained G/A snv
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1555928716
rs1555928716 		0.925 X 20167669 stop gained G/A snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs1555928716
rs1555928716 		0.925 X 20167669 stop gained G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555928716
rs1555928716 		0.925 X 20167669 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1555928716
rs1555928716 		0.925 X 20167669 stop gained G/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0