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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 3 | 172447937 | synonymous variant | C/T | snv | 0.31 | 0.24 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
20 | 35319358 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 141383991 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
6 | 34270737 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 4 | 2009 | 2019 | ||||||||||
|
13 | 91372320 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
3 | 172251287 | missense variant | C/G | snv | 0.54 | 0.61 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
1 | 118312964 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
17 | 38765943 | 3 prime UTR variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
15 | 83899406 | intron variant | T/A | snv | 0.63 |
|
0.700 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
8 | 56183249 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2008 | 2014 | ||||||||||
|
9 | 75927370 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
17 | 63685671 | intron variant | G/C | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
6 | 31138682 | missense variant | C/A;T | snv | 0.13; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2014 | 2019 | ||||||||||
|
12 | 65958046 | 3 prime UTR variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||||||
|
6 | 130024690 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
2 | 37733470 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||||||
|
18 | 49061284 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
20 | 6632185 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2014 | 2019 | |||||||||||
|
1 | 184049341 | upstream gene variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
14 | 24361644 | upstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
3 | 141414608 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
20 | 6645571 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||||||
|
7 | 92635096 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 3 | 2008 | 2009 | ||||||||||
|
6 | 34231315 | regulatory region variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 3 | 2010 | 2019 |