rs121913279, PIK3CA

N. diseases: 101
Disease: Hidradenoma Papilliferum ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hidradenoma Papilliferum
CUI: C0334348
Disease: Hidradenoma Papilliferum
0.020 GeneticVariation BEFREE Direct sequencing revealed the presence of somatic <i>PIK3CA</i> mutations (Ex9. c.1633G>A, p.E545K and Ex20. c.3140A>G, p.H1047R) in two of the HPs and an <i>AKT1</i> (c.49G>A, p.E17K) mutation in one. 27742746 2017
Hidradenoma Papilliferum
CUI: C0334348
Disease: Hidradenoma Papilliferum
0.020 GeneticVariation BEFREE BRAF V600E mutation was found in an HP that also had a PIK3CA H1047R mutation.No RAS mutation was found. 27184479 2016