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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 4 | 2010 | 2012 | |||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
15 | 78581634 | intron variant | T/A | snv | 0.29 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2010 | 2010 | ||||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2010 | 2010 | |||||||
|
15 | 78591471 | intron variant | A/G | snv | 0.38 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2010 | 2010 | |||||||||
|
0.851 | 0.080 | 15 | 78565644 | 5 prime UTR variant | C/G | snv | 0.31 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.851 | 0.080 | 15 | 78565644 | 5 prime UTR variant | C/G | snv | 0.31 |
|
Neoplasms | 0.710 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.882 | 0.120 | 15 | 78578946 | intron variant | T/C | snv | 0.60 |
|
Behavior and Behavior Mechanisms | 0.020 | 1.000 | 2 | 2006 | 2014 | |||||||
|
1.000 | 0.040 | 15 | 78581651 | intron variant | A/T | snv | 0.26 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 15 | 78593856 | 3 prime UTR variant | C/T | snv | 0.24 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.882 | 0.080 | 15 | 78586199 | intron variant | G/A | snv | 0.26 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 15 | 78569722 | intron variant | C/A;T | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78569722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 15 | 78569722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 15 | 78584808 | intron variant | A/G | snv | 0.68 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78584808 | intron variant | A/G | snv | 0.68 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 15 | 78584808 | intron variant | A/G | snv | 0.68 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 15 | 78588235 | intron variant | G/C | snv | 3.1E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78574103 | intron variant | G/A | snv | 0.26 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78574103 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78574103 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 78591694 | intron variant | CCTT/- | delins | 6.3E-03 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
15 | 78583281 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78569576 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |