CHRNA4, cholinergic receptor nicotinic alpha 4 subunit, 1137
N. diseases: 248; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 20 | 63356709 | intron variant | G/A;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 20 | 63350405 | missense variant | G/A;T | snv | 3.3E-04; 4.0E-06 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 20 | 63350819 | missense variant | C/T | snv | 4.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 20 | 63350819 | missense variant | C/T | snv | 4.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 20 | 63350381 | missense variant | C/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.080 | 20 | 63350572 | missense variant | G/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 63350533 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 20 | 63350538 | inframe insertion | -/CAG | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 20 | 63350560 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 20 | 63350560 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 20 | 63350552 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
20 | 63362813 | intron variant | G/A | snv | 8.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
20 | 63362813 | intron variant | G/A | snv | 8.6E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 20 | 63359526 | non coding transcript exon variant | C/T | snv | 4.0E-06; 9.2E-02 | 9.5E-02 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.882 | 0.080 | 20 | 63355597 | splice acceptor variant | T/C | snv | 0.16 | 0.16 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 20 | 63355597 | splice acceptor variant | T/C | snv | 0.16 | 0.16 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 20 | 63355597 | splice acceptor variant | T/C | snv | 0.16 | 0.16 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 20 | 63355597 | splice acceptor variant | T/C | snv | 0.16 | 0.16 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Chemically-Induced Disorders; Mental Disorders | 0.040 | 1.000 | 4 | 2004 | 2013 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2015 | 2015 |