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 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 33109861 | intron variant | T/C | snv | 8.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 15 | 66426943 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 65459777 | intron variant | A/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 17 | 45486856 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 11 | 6321099 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 147579693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 5 | 5297087 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 99625823 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 8 | 68961217 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 7 | 82414674 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 7 | 111871082 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 5 | 81072944 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 7 | 147885213 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 20 | 41197420 | intron variant | A/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 17 | 28110028 | intron variant | G/A | snv | 7.1E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 103390184 | intron variant | T/A;C | snv | 4.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 52767390 | intron variant | T/C | snv | 1.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 89500202 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 |