rs121913279, PIK3CA

N. diseases: 101
Disease: Lymphatic Abnormalities ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lymphatic Abnormalities
CUI: C0398368
Disease: Lymphatic Abnormalities
0.010 GeneticVariation BEFREE The hotspot mutations c.1624G>A, c.1633G>A, and c.3140A>G (p.Glu542Lys, p.Glu545Lys, and p.His1047Arg), frequent in PIK3CA-associated cancers, overgrowth syndromes, and lymphatic malformation (LM), account for >92% of individuals who carry mutations. 26637981 2015