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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.040 | 0.750 | 4 | 2005 | 2015 | |||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
8 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
15 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 21 | 26844276 | missense variant | C/A;G;T | snv | 1.3E-05; 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 17 | 69960745 | upstream gene variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 5 | 100613278 | intergenic variant | A/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.040 | 1 | 74769633 | downstream gene variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 1.000 | 3 | 2015 | 2017 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 16 | 88643304 | 3 prime UTR variant | A/G | snv | 0.62 | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.160 | 1 | 161223893 | upstream gene variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 13 | 110186299 | intron variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 |