Disease: Ventricular Septal Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918455
rs121918455
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0018818
Disease:
Ventricular Septal Defects 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918466
rs121918466
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign. 17641779 2007