ATM, ATM serine/threonine kinase, 472
N. diseases: 684; N. variants: 974
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.280 | 11 | 108353828 | missense variant | A/G | snv | 2.2E-04 | 1.8E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.807 | 0.160 | 11 | 108354934 | 3 prime UTR variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 108222481 | intron variant | A/T | snv | 0.58 | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||||
|
0.882 | 0.120 | 11 | 108304736 | missense variant | A/T | snv | 4.9E-03 | 4.4E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2002 | 2018 | |||||||
|
0.807 | 0.160 | 11 | 108272455 | intron variant | C/A;T | snv | 0.65 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.280 | 11 | 108243994 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.280 | 11 | 108304801 | stop gained | C/A;T | snv | 2.0E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 11 | 108251865 | missense variant | C/G | snv | 3.9E-03 | 1.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.160 | 11 | 108332024 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2004 | 2010 | |||||||
|
0.925 | 0.080 | 11 | 108281855 | intron variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 108289623 | missense variant | C/T | snv | 1.1E-02 | 1.1E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2003 | 2007 | ||||||
|
0.925 | 0.080 | 11 | 108365152 | missense variant | C/T | snv | 7.6E-05 | 5.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.120 | 11 | 108289005 | missense variant | C/T | snv | 1.2E-02 | 2.2E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.120 | 11 | 108349930 | intron variant | C/T | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.320 | 11 | 108244873 | stop gained | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.786 | 14 | 2003 | 2019 | ||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.925 | 0.080 | 11 | 108234866 | intron variant | G/A | snv | 0.36 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 11 | 108327759 | splice donor variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 11 | 108283370 | intron variant | G/C | snv | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.280 | 11 | 108331498 | missense variant | G/C;T | snv | 2.4E-05 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.280 | 11 | 108312424 | stop gained | G/T | snv | 4.4E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |