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: 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
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: rs397517149
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011
dbSNP: rs397517159
rs397517159
SOS1
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011
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: 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
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0027960
Disease: Nevus
Nevus 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		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: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0