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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.240 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.080 | 9 | 99143552 | intron variant | A/G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 9 | 117713505 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 12 | 130739483 | intergenic variant | T/C | snv | 0.97 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 9 | 5076613 | intron variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 4 | 176764117 | intron variant | C/G | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 17 | 59841547 | 3 prime UTR variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 17 | 59841670 | 3 prime UTR variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 17 | 72101710 | intron variant | A/G | snv | 5.5E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 |