rs1325547001, FGFR3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K). 19789314 2009
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.010 GeneticVariation BEFREE By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. 17673550 2007