Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 23532038 | 3 prime UTR variant | A/G | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 7677910 | intron variant | G/A | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 10058819 | intron variant | T/C | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 27774162 | intron variant | G/A | snv | 6.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 69487514 | intron variant | G/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56896317 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 68176701 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58451510 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 42694939 | intron variant | C/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58432593 | intron variant | T/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
15 | 58432643 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 45175424 | synonymous variant | T/C | snv | 7.9E-03 | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
14 | 64945992 | 3 prime UTR variant | G/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 110289053 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 122651667 | upstream gene variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
11 | 119047825 | splice region variant | G/A | snv | 1.2E-02 | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 16374856 | intron variant | A/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 17192393 | intron variant | T/C | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 78040201 | missense variant | C/A | snv | 1.7E-02 | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
10 | 16835081 | missense variant | G/A;C | snv | 4.0E-06; 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 82091203 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 114717445 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
6 | 160667886 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 99788078 | upstream gene variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |