| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 1000800 | synonymous variant | G/C | snv | 0.71 | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 101160470 | intron variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 101183294 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 102840179 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 103718366 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
19 | 1049306 | synonymous variant | C/A;G | snv | 0.18; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 108378047 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 10848901 | downstream gene variant | C/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109286353 | non coding transcript exon variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 109660467 | downstream gene variant | A/G | snv | 8.7E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 110187517 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 1104823 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 110919923 | intron variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113106194 | upstream gene variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113108257 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
9 | 114026974 | intron variant | A/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 114086475 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 114113387 | intron variant | C/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 11780735 | intron variant | A/G | snv | 4.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |