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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 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 | ||||||||
|
0.882 | 0.160 | 5 | 40764612 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.040 | 5 | 40793242 | intron variant | T/G | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 5 | 40793242 | intron variant | T/G | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 5 | 40793242 | intron variant | T/G | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 5 | 40792051 | intron variant | T/A | snv | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40792051 | intron variant | T/A | snv | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40799438 | upstream gene variant | G/A | snv | 0.70 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40799438 | upstream gene variant | G/A | snv | 0.70 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 40799438 | upstream gene variant | G/A | snv | 0.70 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 40764955 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
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 |