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 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.080 | 19 | 44908729 | missense variant | G/A;C;T | snv | 6.3E-06; 6.3E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 9 | 72901960 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 6 | 41182853 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 17 | 44350293 | missense variant | T/C | snv | 1.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 17 | 63489010 | missense variant | G/A;T | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 6 | 56704357 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2017 | 2018 | |||||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |