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: rs1553354396
rs1553354396
SOS1
1.000 2 39012309 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 2002 2016
dbSNP: rs1057519963
rs1057519963
SOS1
0.925 0.080 2 39054637 missense variant T/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519963
rs1057519963
SOS1
0.925 0.080 2 39054637 missense variant T/A snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs387906518
rs387906518
SOS1
1.000 0.080 2 38995220 frameshift variant -/G delins
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		0.700 0
dbSNP: rs397517172
rs397517172
SOS1
0.925 0.160 2 39056704 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 2002 2016
dbSNP: rs397517174
rs397517174
SOS1
0.925 0.160 2 39054822 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 2002 2016
dbSNP: rs397517174
rs397517174
SOS1
0.925 0.160 2 39054822 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 2002 2016
dbSNP: rs397517164
rs397517164
SOS1
0.925 0.160 2 39058696 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 7 2007 2014
dbSNP: rs397517172
rs397517172
SOS1
0.925 0.160 2 39056704 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2008 2018
dbSNP: rs267607080
rs267607080
SOS1
0.925 0.160 2 39023134 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2007 2011
dbSNP: rs397517180
rs397517180
SOS1
0.925 0.160 2 39035440 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 1991 2008
dbSNP: rs574088829
rs574088829
SOS1
0.925 0.160 2 39012319 missense variant T/A;G snv 4.0E-06
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 4 2007 2013
dbSNP: rs727504295
rs727504295
SOS1
0.925 0.160 2 39023106 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2007 2011
dbSNP: rs727505093
rs727505093
SOS1
1.000 0.160 2 39014838 missense variant A/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2001 2014
dbSNP: rs397517146
rs397517146
SOS1
1.000 0.160 2 39024080 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 1.000 1 2011 2018
dbSNP: rs397517153
rs397517153
SOS1
0.925 0.160 2 39022779 missense variant A/C;G snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs1553353452
rs1553353452
SOS1
1.000 0.160 2 39007033 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs267607080
rs267607080
SOS1
0.925 0.160 2 39023134 missense variant A/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		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: 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: rs397517163
rs397517163
SOS1
1.000 0.160 2 38996981 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0