CHRNA5, cholinergic receptor nicotinic alpha 5 subunit, 1138
N. diseases: 110; N. variants: 40
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 | 0.080 | 15 | 78589276 | non coding transcript exon variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78589276 | non coding transcript exon variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78589276 | non coding transcript exon variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78585221 | intron variant | A/G | snv | 0.64 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78585221 | intron variant | A/G | snv | 0.64 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78585221 | intron variant | A/G | snv | 0.64 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 15 | 78593646 | 3 prime UTR variant | T/C | snv | 0.64 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 15 | 78595490 | 3 prime UTR variant | A/G;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
Mental Disorders | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 15 | 78573551 | intron variant | G/A;C | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 15 | 78578946 | intron variant | T/C | snv | 0.60 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.080 | 15 | 78565644 | 5 prime UTR variant | C/G | snv | 0.31 |
|
Neoplasms | 0.710 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.080 | 15 | 78563924 | upstream gene variant | C/T | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 15 | 78563924 | upstream gene variant | C/T | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 15 | 78563924 | upstream gene variant | C/T | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.080 | 15 | 78565554 | 5 prime UTR variant | T/A | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |