PRKAA1, protein kinase AMP-activated catalytic subunit alpha 1, 5562
N. diseases: 325; N. variants: 13
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 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.780 | 1.000 | 11 | 2011 | 2018 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.780 | 1.000 | 9 | 2011 | 2018 | |||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.720 | 1.000 | 3 | 2014 | 2018 | |||||||
|
1.000 | 0.040 | 5 | 40767295 | intron variant | A/G | snv | 0.31 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 40778539 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 5 | 40798143 | missense variant | T/C | snv | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 40765164 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 5 | 40764612 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 5 | 40764612 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |