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: rs11979158
rs11979158
0.882 0.040 7 55091656 intron variant A/G;T snv 0.20
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.850 1.000 6 2011 2018
dbSNP: rs59060240
rs59060240
0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs723527
rs723527
0.882 0.040 7 55067179 intron variant A/G snv 0.53
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs730437
rs730437
0.925 0.120 7 55147325 intron variant A/C snv 0.51
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.040 0.750 4 2012 2017
dbSNP: rs1468727
rs1468727
0.925 0.120 7 55162412 intron variant C/T snv 0.21
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.030 1.000 3 2012 2015
dbSNP: rs11506105
rs11506105
0.851 0.160 7 55152484 intron variant A/G snv 0.59
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs12718945
rs12718945
1.000 0.040 7 55125270 intron variant T/G snv 0.51
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs17172432
rs17172432
0.882 0.080 7 55073624 intron variant T/C snv 0.31
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs3752651
rs3752651
1.000 0.040 7 55161850 intron variant T/C snv 0.15
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs397517132
rs397517132
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4947492
rs4947492
0.925 0.040 7 55120299 intron variant G/A snv 0.50
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs845552
rs845552
1.000 0.040 7 55177814 intron variant A/G snv 0.43
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 < 0.001 1 2017 2017