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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 20 | 5967581 | missense variant | G/A | snv | 4.5E-02 | 4.2E-02 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
1.000 | 0.040 | 19 | 55308477 | intron variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | |||||||
|
16 | 11923062 | upstream gene variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
0.925 | 0.120 | 19 | 55322296 | intron variant | A/G | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
19 | 55809297 | missense variant | G/A | snv | 0.32 | 0.26 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
6 | 10897255 | intron variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
1.000 | 0.040 | 20 | 5954739 | intron variant | T/C | snv | 0.84 | 0.84 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||
|
0.925 | 0.080 | 8 | 38120214 | intron variant | T/G | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
5 | 176951573 | synonymous variant | G/T | snv | 0.51 | 0.58 |
|
0.800 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
2 | 171134461 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 81524000 | intergenic variant | C/A | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
2 | 81441684 | intergenic variant | T/C | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
10 | 123228637 | intergenic variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 30361352 | intergenic variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 225360907 | intergenic variant | C/T | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 241877473 | intron variant | C/T | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 106855364 | intergenic variant | T/C | snv | 9.3E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
14 | 20470092 | intron variant | A/C | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
9 | 79730966 | downstream gene variant | G/A | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
15 | 89320697 | intron variant | T/G | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 49732085 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 28544649 | intron variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |