rs121913495, GNAS

N. diseases: 28
Disease: Anaplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anaplasia
CUI: C0002793
Disease: Anaplasia
0.010 GeneticVariation BEFREE Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation. 24525511 2014