| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 103078059 | 3 prime UTR variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
22 | 39517277 | 3 prime UTR variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 4882928 | 3 prime UTR variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 220963330 | regulatory region variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 100147663 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | |||||||
|
3 | 25340465 | intron variant | G/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 18938389 | synonymous variant | G/A | snv | 0.40 | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 44906863 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 128067871 | regulatory region variant | A/C;G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 4852599 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
10 | 79377440 | upstream gene variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 18345583 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 19203130 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 10428441 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 52068035 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 103884565 | intron variant | G/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 235748725 | intron variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 44892783 | intron variant | G/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 88708570 | intron variant | A/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 19401081 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 124824136 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 4222843 | intergenic variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |