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: rs149840192
rs149840192
0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.710 1.000 2 2016 2018
dbSNP: rs723527
rs723527
0.882 0.040 7 55067179 intron variant A/G snv 0.53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 2 2017 2018
dbSNP: rs1057519887
rs1057519887
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
0.925 0.080 7 55143386 missense variant A/G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11979158
rs11979158
0.882 0.040 7 55091656 intron variant A/G;T snv 0.20
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs121913428
rs121913428
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs139236063
rs139236063
0.925 0.080 7 55165350 missense variant G/C;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs28929495
rs28929495
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs59060240
rs59060240
0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs769696078
rs769696078
0.925 0.040 7 55154128 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913444
rs121913444
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9642393
rs9642393
0.925 0.040 7 55177954 intron variant T/C snv 0.24
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.010 1.000 1 2013 2013