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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 18 | 72302261 | intergenic variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 30446936 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 122969896 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 83834281 | intergenic variant | G/A;T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 150170920 | intron variant | T/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.790 | 1.000 | 1 | 2008 | 2019 | |||
|
1 | 3 | 45114350 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 | 0.700 | 0 | ||||||
|
1 | 1 | 150167075 | downstream gene variant | A/G | snv | 2.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 46132125 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||||
|
1 | 21 | 46131981 | missense variant | G/A | snv | 5.9E-05 | 4.2E-05 | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.200 | 17 | 7224011 | missense variant | G/A;C | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 19 | 38460515 | frameshift variant | G/- | delins | 2.8E-05 | 0.700 | 0 | |||||||||
|
1 | 2 | 178706629 | stop gained | G/A | snv | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||||
|
21 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 11 | 47447853 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.200 | 17 | 7223993 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.120 | 19 | 38448398 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
19 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
25 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 9 | 36249352 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
3 | 1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |