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