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 | 0.882 | 0.120 | 2 | 646364 | intergenic variant | T/A | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 51775844 | missense variant | G/A;C | snv | 2.4E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 10 | 119326585 | missense variant | A/T | snv | 3.8E-02 | 9.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 14 | 24340589 | upstream gene variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 14 | 24336257 | missense variant | G/A;T | snv | 1.2E-05; 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 5 | 179823911 | missense variant | C/G;T | snv | 1.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 12 | 20862826 | missense variant | G/A | snv | 0.81 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 17 | 66319248 | intron variant | G/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 6 | 71484004 | intergenic variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
4 | 0.851 | 0.080 | 1 | 237648523 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 4 | 147485727 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 111503935 | intron variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 3 | 38550915 | synonymous variant | A/G | snv | 0.39 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.040 | 19 | 35756980 | missense variant | G/A;T | snv | 7.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 |