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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
Respiratory Tract Diseases | 0.780 | 0.889 | 9 | 2010 | 2018 | ||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
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 | |||||||
|
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 | 78574103 | intron variant | G/A | snv | 0.26 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78572855 | intron variant | A/G;T | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78594605 | 3 prime UTR variant | G/A | snv | 0.24 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.080 | 15 | 78565644 | 5 prime UTR variant | C/G | snv | 0.31 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 15 | 78565597 | 5 prime UTR variant | T/G | snv | 0.25 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78585039 | intron variant | C/A;T | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78570111 | intron variant | C/A;T | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78581651 | intron variant | A/T | snv | 0.26 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 78576294 | intron variant | G/A | snv | 0.24 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 15 | 78586199 | intron variant | G/A | snv | 0.26 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 15 | 78593232 | missense variant | T/A;C | snv | 2.0E-02; 1.2E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |