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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.975 | 40 | 2005 | 2019 | ||||||||
|
0.827 | 0.160 | 7 | 55206391 | 3 prime UTR variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.975 | 40 | 2005 | 2019 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.120 | 7 | 55019062 | 5 prime UTR variant | G/C;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 55201275 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.851 | 0.080 | 7 | 55146649 | synonymous variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.240 | 7 | 55161562 | missense variant | G/A;C;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 55201269 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.080 | 7 | 55202577 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||||
|
0.851 | 0.080 | 7 | 55200333 | missense variant | G/A | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 7 | 55191839 | missense variant | G/A | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 7 | 55201305 | missense variant | G/A | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.080 | 7 | 55156796 | missense variant | G/A | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 7 | 55143443 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.882 | 0.080 | 7 | 55173984 | missense variant | G/A | snv | 8.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.975 | 40 | 2005 | 2019 | ||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.974 | 115 | 2005 | 2019 | ||||||
|
0.763 | 0.160 | 7 | 55146655 | synonymous variant | C/T | snv | 0.51 | 0.51 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.851 | 0.080 | 7 | 55201223 | synonymous variant | C/T | snv | 0.14 | 9.5E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |