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 | 7 | 156255955 | intergenic variant | T/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 50980053 | intron variant | T/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 20 | 19870811 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | X | 145059799 | downstream gene variant | T/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.040 | 17 | 48763179 | intron variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 7 | 146262151 | intron variant | T/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 7 | 146254550 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.050 | 0.800 | 5 | 2011 | 2019 | |||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.720 | 0.667 | 3 | 2014 | 2017 | ||||
|
3 | 0.925 | 0.040 | 8 | 32756465 | missense variant | T/C | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 6 | 89022382 | regulatory region variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.200 | 6 | 28289600 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 13 | 105463160 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.040 | 18 | 55527730 | intron variant | T/C | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 18 | 50669431 | non coding transcript exon variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2014 | 2014 |