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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 12 | 109441487 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 53440658 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 9 | 10582445 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 33601810 | intron variant | T/C | snv | 0.42 | 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 | ||||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 4 | 150101495 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 201918593 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | ||||
|
3 | 0.925 | 0.040 | 4 | 89500202 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1 | 7796286 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1 | 7830057 | missense variant | T/C | snv | 0.14 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 2 | 143491336 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 2 | 58529594 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 5 | 88709286 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 20 | 46093017 | upstream gene variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 15 | 77714500 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 7 | 125794995 | intergenic variant | T/C | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 211885061 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 156300636 | downstream gene variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 16803898 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 10 | 104800467 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |