Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516809
rs397516809
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011