Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376607329
rs376607329
PTPN11
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs376607329
rs376607329
PTPN11
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs376607329
rs376607329
PTPN11
A 0.800 GeneticVariation CLINVAR