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: rs397517166
rs397517166
SOS1
0.925 0.160 2 39058683 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs397517174
rs397517174
SOS1
0.925 0.160 2 39054822 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
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: 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: rs397517149
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 0.875 7 2007 2014
dbSNP: rs397517159
rs397517159
SOS1
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 7 2007 2013
dbSNP: rs397517147
rs397517147
SOS1
0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 6 2007 2010
dbSNP: rs137852812
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2007 2010
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: 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: 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: 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: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 5 2007 2011
dbSNP: rs397517149
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2007 2018
dbSNP: rs397517159
rs397517159
SOS1
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 1.000 3 2007 2007
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2007 2007
dbSNP: rs397517156
rs397517156
SOS1
0.851 0.200 2 39012333 missense variant T/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs137852812
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		0.700 0
dbSNP: rs137852812
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs137852812
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011