ALOX5AP, arachidonate 5-lipoxygenase activating protein, 241
N. diseases: 76; N. variants: 20
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 30739088 | intron variant | C/A;G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 30739088 | intron variant | C/A;G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 30740318 | intron variant | C/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2011 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2011 | 2019 | ||||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 0.667 | 3 | 2015 | 2019 | |||||||
|
0.882 | 0.160 | 13 | 30732134 | intron variant | G/A | snv | 0.49 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 0.333 | 3 | 2012 | 2019 | |||||||
|
0.851 | 0.160 | 13 | 30736442 | intron variant | G/A;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 30725416 | intron variant | G/A | snv | 6.9E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2008 | 2019 | |||||||
|
0.827 | 0.240 | 13 | 30752304 | intron variant | G/A | snv | 5.8E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2007 | 2019 | |||||||
|
0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 13 | 30738041 | intron variant | A/T | snv | 0.24 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 13 | 30738041 | intron variant | A/T | snv | 0.24 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 13 | 30756000 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 13 | 30756000 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |