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 | |||||||
|
1.000 | 0.040 | 15 | 78572855 | intron variant | A/G;T | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78572855 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 15 | 78572855 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
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 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
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 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 15 | 78567268 | intron variant | G/A | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
15 | 78576056 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78576056 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
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 | |||||||
|
0.882 | 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 |