Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852812
rs137852812
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs137852812
rs137852812
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs137852812
rs137852812
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs137852812
rs137852812
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs137852812
rs137852812
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