CHEK2, checkpoint kinase 2, 11200
N. diseases: 297; N. variants: 261
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 5 | 2008 | 2015 | |||||||
|
1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 5 | 2008 | 2015 | |||||||
|
0.882 | 0.120 | 22 | 28725031 | missense variant | G/A | snv | 1.0E-03 | 5.5E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 22 | 28725027 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 22 | 28725030 | missense variant | C/A;T | snv | 4.0E-06; 6.0E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 22 | 28725028 | missense variant | G/A;C | snv | 1.1E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 22 | 28734532 | missense variant | C/T | snv | 1.6E-04 | 1.5E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 22 | 28699893 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06; 4.0E-06; 4.8E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28694073 | missense variant | G/A;C;T | snv | 1.7E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 22 | 28711950 | missense variant | T/A | snv | 8.0E-06 | 8.4E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 22 | 28725253 | missense variant | C/G;T | snv | 8.0E-06; 1.6E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 22 | 28725070 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2004 | 2008 | |||||||
|
0.925 | 0.080 | 22 | 28695159 | missense variant | A/C | snv | 1.4E-03 | 5.4E-03 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.120 | 22 | 28695190 | missense variant | C/A;G;T | snv | 3.9E-04 | 3.4E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |