Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518764
rs1057518764
DLX3
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1568793309
rs1568793309
JAG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs28939668
rs28939668
JAG1
0.010 GeneticVariation BEFREE We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction. 12649809

2003