EEF1A2, eukaryotic translation elongation factor 1 alpha 2, 1917
N. diseases: 166; N. variants: 12
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2009 | 2017 | ||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2009 | 2017 | ||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2009 | 2017 | ||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2012 | 2017 | |||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 1988 | 2016 | |||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
1.000 | 20 | 63488423 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 20 | 63496168 | non coding transcript exon variant | G/A | snv | 0.48 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 20 | 63490507 | missense variant | G/A | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 20 | 63495056 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 20 | 63490687 | missense variant | G/A | snv | 4.1E-06 |
|
0.700 | 0 |