Source: ALL

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: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 9 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 0.875 8 2007 2014
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 2002 2016
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 2002 2016
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0