rs1210653597, CDKN2A

N. diseases: 2
Disease: Glioblastoma Multiforme ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.010 GeneticVariation BEFREE One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. 20455025 2010