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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.684 | 19 | 2005 | 2020 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.050 | 1.000 | 5 | 2010 | 2020 | ||||
|
5 | 0.851 | 0.040 | 10 | 103016151 | intron variant | G/A | snv | 0.40 | 0.830 | 1.000 | 5 | 2011 | 2020 | ||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.040 | 1.000 | 4 | 2010 | 2020 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.030 | 1.000 | 3 | 2009 | 2020 | ||||
|
6 | 0.807 | 0.280 | 3 | 120096110 | non coding transcript exon variant | T/A | snv | 0.14 | 0.030 | 1.000 | 3 | 2011 | 2020 | ||||
|
3 | 0.882 | 0.040 | 20 | 10303770 | intron variant | A/G | snv | 0.34 | 0.030 | 1.000 | 3 | 2009 | 2020 | ||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2008 | 2020 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 0.500 | 2 | 2010 | 2020 | ||||
|
2 | 0.925 | 0.040 | 5 | 1445501 | upstream gene variant | A/T | snv | 0.50 | 0.020 | 1.000 | 2 | 2010 | 2020 | ||||
|
9 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 10 | 102814805 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 5 | 1448033 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 10 | 102776603 | intron variant | G/A | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
7 | 0.827 | 0.200 | 17 | 30224840 | intron variant | C/T | snv | 6.8E-02 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 5 | 1423790 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.080 | 6 | 31829810 | synonymous variant | C/G | snv | 0.57 | 0.52 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 20 | 10218306 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 7 | 2008240 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.854 | 123 | 1997 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.869 | 84 | 2003 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.872 | 78 | 2003 | 2019 |