Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019