rs1057518914, RPS6KA3

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Deep philtrum
CUI: C1839797
Disease: Deep philtrum
5 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Deformity of lower limb
CUI: C1096086
Disease: Deformity of lower limb
5 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0