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: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
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: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
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: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		0.700 0
dbSNP: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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
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 0 2007 2011
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011
dbSNP: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011