| 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 |
|
0.700 | 1.000 | 4 | 2016 | 2019 | |||||||
|
10 | 71760875 | missense variant | A/C | snv | 0.88 | 0.90 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
1 | 36478315 | intron variant | C/G | snv | 0.59 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
17 | 39987295 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
7 | 28684757 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
6 | 22343363 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 16744456 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
16 | 85982722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
4 | 74094279 | downstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 23109256 | intron variant | G/A | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
17 | 40007042 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
4 | 73838282 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.040 | 12 | 51912002 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
3 | 12225304 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
14 | 24992783 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
7 | 28237488 | intron variant | C/G;T | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 159549102 | intergenic variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
16 | 84549359 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 31279426 | intron variant | A/G;T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2014 | 2019 |