Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518914
rs1057518914
RPS6KA3
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
RPS6KA3
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
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
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
RPS6KA3
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
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0