rs137852813, SOS1

N. diseases: 11
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.
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
30 0.807 0.200 2 39051202 missense variant A/C;G snv 0.800 1.000 9 2007 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.807 0.200 2 39051202 missense variant A/C;G snv 0.710 0.875 8 2007 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 21 2002 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 21 2002 2016
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
Coarse features
CUI: C0424492
Disease: Coarse features
2 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 0