Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774905136
rs774905136
EGFR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE The brain and lymph node tumors had identical genotypes: C228T-mutated TERT promoter, wild-type IDH1, wild-type IDH2, wild-type TP53, EGFR amplification, and unmethylated MGMT promoter. 26852708

2016
dbSNP: rs774905136
rs774905136
EGFR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE Somatic mutations and the SNP likely have opposing effects on hTERT expression. hTERT expression was significantly higher in the C228T or C250T mutated tumors. 24930669

2014