Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517147
rs397517147
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.010 GeneticVariation BEFREE The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. 18456719 2008