rs397517148, SOS1

N. diseases: 27
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
30 0.776 0.200 2 39023128 missense variant C/T snv 0.700 1.000 8 2007 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.776 0.200 2 39023128 missense variant C/T snv 0.700 1.000 2 2007 2007
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Deep philtrum
CUI: C1839797
Disease: Deep philtrum
5 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
6 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Increased nuchal translucency
CUI: C4023676
Disease: Increased nuchal translucency
2 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0