Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517148
rs397517148
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs397517148
rs397517148
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
dbSNP: rs397517148
rs397517148
SOS1
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1854114
Disease: Short nose
Short nose 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		T 0.700 CausalMutation CLINVAR