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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||
|
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 | ||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
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 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
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 | ||||||||||
|
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 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
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 |
|
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 | ||||||||||
|
1.000 | 0.040 | 15 | 78594605 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78594605 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 15 | 78565554 | 5 prime UTR variant | T/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |