EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139236063
rs139236063
0.925 0.080 7 55165350 missense variant G/C;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 2 2006 2016
dbSNP: rs149840192
rs149840192
0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 2 2006 2016
dbSNP: rs1057519828
rs1057519828
7 55143387 missense variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1057519829
rs1057519829
7 55154050 missense variant A/C;G snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1057519887
rs1057519887
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
0.925 0.080 7 55143386 missense variant A/G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs769696078
rs769696078
0.925 0.040 7 55154128 missense variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs397517132
rs397517132
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014