rs397517132, EGFR

N. diseases: 48
Disease: Pleomorphic Xanthoastrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation BEFREE We find that PXAs are genetically defined by the combination of CDKN2A biallelic inactivation and RAF alterations that were present in all 19 cases, most commonly as CDKN2A homozygous deletion and BRAF p.V600E mutation but also occasionally BRAF or RAF1 fusions or other rearrangements. 30051528 2019
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation BEFREE BRAF V600E mutation was present in four eGBMs and four ePXAs. 26238627 2016