Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517150
rs397517150
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011