Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278

2005
dbSNP: rs387906819
rs387906819
GATA6
A 0.700 CausalMutation CLINVAR