| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | |||||||
|
19 | 49496752 | intron variant | G/A | snv | 0.12 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
17 | 1715069 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 35068570 | intron variant | T/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
15 | 43927409 | intron variant | G/A | snv | 9.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 47419207 | intron variant | G/A | snv | 0.35 | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 73626484 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
19 | 35064286 | intron variant | T/C | snv | 0.85 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 62458879 | regulatory region variant | T/C | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
9 | 109468618 | intron variant | G/A | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 31345371 | intron variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 176486024 | intergenic variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 35062437 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 72940941 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 71731350 | intergenic variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
19 | 49509317 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.160 | 17 | 16939677 | missense variant | G/A | snv | 0.14 | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 3419582 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 19188685 | intergenic variant | T/C | snv | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 94587675 | missense variant | A/G | snv | 0.14 | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
17 | 1743357 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 22702437 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 78698045 | intergenic variant | C/A | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |