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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 107366232 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 3 | 66173478 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 6 | 80443056 | non coding transcript exon variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 149675023 | intron variant | A/C | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 183579642 | regulatory region variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 22 | 44858015 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 22 | 44855931 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 17370820 | regulatory region variant | A/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 13 | 104623579 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 20 | 24330541 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 10 | 17089754 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
3 | 0.882 | 0.120 | 3 | 157121142 | intron variant | G/C | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 9 | 72725323 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 3 | 74928276 | intergenic variant | C/- | del | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 13 | 46854336 | intron variant | A/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 18 | 60372319 | missense variant | T/C | snv | 6.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |