Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 6 | 2007 | 2019 | ||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 2 | 2007 | 2019 | ||||
|
3 | 7 | 131768766 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2017 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 14 | 2009 | 2019 | ||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 12 | 2009 | 2019 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.700 | 1.000 | 7 | 2009 | 2019 | |||
|
6 | 1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 6 | 2009 | 2018 | ||||
|
8 | 1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 5 | 2009 | 2019 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||
|
9 | 0.925 | 0.120 | 16 | 28871920 | missense variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 4 | 2009 | 2019 | ||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2019 | |||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2009 | 2019 | ||||
|
7 | 0.925 | 0.200 | 1 | 72346757 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.700 | 1.000 | 2 | 2009 | 2019 | ||||
|
7 | 0.925 | 0.120 | 2 | 644953 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 11 | 8462542 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 1.000 | 0.080 | 11 | 47641497 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.925 | 0.160 | 16 | 53735765 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 14 | 2010 | 2019 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 11 | 2010 | 2019 |