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: 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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		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: 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: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		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: rs397517149
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		0.700 0
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: 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: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		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: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		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: C4024165
Disease: Prominent ear helix
Prominent ear helix 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0