Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517132
rs397517132
EGFR
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
dbSNP: rs397517132
rs397517132
EGFR
0.020 GeneticVariation BEFREE BRAF V600E mutation was present in four eGBMs and four ePXAs. 26238627

2016