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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
18 | 0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 18 | 35906684 | upstream gene variant | C/T | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 17 | 59841670 | 3 prime UTR variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 10 | 44376100 | intron variant | G/A;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 122052011 | upstream gene variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 10 | 44379119 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.200 | 5 | 149431183 | non coding transcript exon variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 7 | 100093577 | mature miRNA variant | C/T | snv | 6.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
17 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 98576823 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 3 | 12292917 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 |