PRKRA, protein activator of interferon induced protein kinase EIF2AK2, 8575
N. diseases: 113; N. variants: 9
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 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 |
|
Nervous System Diseases | 0.800 | 1.000 | 5 | 2008 | 2016 | ||||||
|
1.000 | 0.080 | 2 | 178431544 | 3 prime UTR variant | T/C | snv |
|
Immune System Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 178439249 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.120 | 2 | 178436244 | missense variant | G/A;T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 178436244 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 178444438 | missense variant | G/A | snv | 5.1E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 2 | 178447554 | frameshift variant | AT/- | delins | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 2 | 178450382 | missense variant | C/G | snv | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 2 | 178449632 | intron variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 178449632 | intron variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 178437157 | intron variant | A/G | snv | 0.72 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 2 | 178437157 | intron variant | A/G | snv | 0.72 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 2 | 178437157 | intron variant | A/G | snv | 0.72 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 |