Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1372399305
rs1372399305
ACAN
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462

2018