Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516047
rs1057516047
TTC7A ; STPG4
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016