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 | 0.882 | 0.080 | 11 | 105762027 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 5 | 39203496 | intron variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | ||||
|
5 | 0.827 | 0.120 | 8 | 32750356 | intron variant | T/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 8 | 9988356 | intron variant | T/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 6 | 88146644 | intron variant | T/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 20 | 7279278 | intergenic variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 10 | 105701367 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 32645107 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 13 | 33112802 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.925 | 0.040 | 11 | 33109861 | intron variant | T/C | snv | 8.0E-03 | 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 | ||||
|
4 | 0.851 | 0.040 | 13 | 76889874 | non coding transcript exon variant | T/C | snv | 5.4E-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 | ||||
|
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 | X | 142772620 | intergenic variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |