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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.040 | 0.750 | 4 | 2005 | 2020 | |||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
4 | 0.882 | 0.200 | 1 | 154408627 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.100 | 1.000 | 16 | 1996 | 2019 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 1.000 | 11 | 2012 | 2019 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2011 | 2019 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.050 | 0.800 | 5 | 2013 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 0.500 | 4 | 2010 | 2019 | |||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.720 | 1.000 | 3 | 2008 | 2019 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.030 | 1.000 | 3 | 2016 | 2019 | |||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
4 | 0.882 | 0.160 | 11 | 47259102 | splice region variant | G/A | snv | 0.11 | 0.020 | 1.000 | 2 | 2008 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
13 | 0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
1 | 1.000 | 0.040 | 4 | 81571913 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 14 | 51489516 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 7659861 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 |