Gene: SOS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574088829
rs574088829
SOS1
A 0.700 GeneticVariation CLINVAR NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 23487764

2013
dbSNP: rs397517154
rs397517154
SOS1
T 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs397517154
rs397517154
SOS1
T 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs574088829
rs574088829
SOS1
A 0.700 GeneticVariation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs574088829
rs574088829
SOS1
A 0.700 GeneticVariation CLINVAR Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 20186801

2010
dbSNP: rs397517154
rs397517154
SOS1
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: rs397517154
rs397517154
SOS1
T 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs574088829
rs574088829
SOS1
A 0.700 GeneticVariation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007