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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 8 | 47961514 | splice acceptor variant | A/G | snv |
|
Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 8 | 47931497 | intron variant | TT/-;T;TTT;TTTT | delins | 4.1E-03 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 47881444 | missense variant | G/A | snv | 1.4E-05 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 8 | 47820870 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 47943872 | missense variant | C/A | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 47898527 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
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 | 2006 | 2006 | |||||||
|
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 | 2006 | 2006 | |||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 8 | 47933959 | splice region variant | T/A;C | snv | 0.96 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 8 | 47933959 | splice region variant | T/A;C | snv | 0.96 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47920417 | intron variant | G/A | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47920417 | intron variant | G/A | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47920417 | intron variant | G/A | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47898144 | intron variant | T/G | snv | 2.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47898144 | intron variant | T/G | snv | 2.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 47898144 | intron variant | T/G | snv | 2.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 8 | 47888479 | intron variant | A/G | snv | 4.1E-02 | 3.4E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 8 | 47888479 | intron variant | A/G | snv | 4.1E-02 | 3.4E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.882 | 0.120 | 8 | 47820870 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 |