PRKDC, protein kinase, DNA-activated, catalytic subunit, 5591
N. diseases: 131; N. variants: 18
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
8 | 47824663 | intron variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 47824663 | intron variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 47824663 | intron variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 8 | 47820870 | missense variant | A/C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
1.000 | 8 | 47789188 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | ||||||||||
|
0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
8 | 47798394 | missense variant | A/G | snv | 0.12 | 0.13 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
8 | 47798394 | missense variant | A/G | snv | 0.12 | 0.13 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
8 | 47960120 | missense variant | C/T | snv | 9.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
8 | 47960120 | missense variant | C/T | snv | 9.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 |