Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507504
rs397507504
PTPN11
G 0.700 GeneticVariation CLINVAR Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 26817465

2016
dbSNP: rs397507504
rs397507504
PTPN11
G 0.700 GeneticVariation CLINVAR ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. 21248739

2011