Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519887
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519887
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519887
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016