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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
5 | 0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
10 | 0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
4 | 0.925 | 0.200 | 1 | 167442147 | intron variant | A/G | snv | 0.29 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||
|
4 | 0.882 | 2 | 190398199 | intergenic variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 5 | 157104725 | missense variant | C/A | snv | 0.87 | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 14 | 105647030 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |