Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. 20305546

2010
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411

2009
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR