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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 8 | 101033687 | upstream gene variant | T/C | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 101088883 | intron variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 19 | 10168778 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | X | 102937494 | missense variant | A/G | snv | 5.4E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 10508052 | intron variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 106390428 | intron variant | C/T | snv | 8.4E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
7 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 4 | 110589931 | intergenic variant | G/A;T | snv | 9.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 10 | 111079092 | stop gained | G/A;T | snv | 6.4E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 3 | 112431166 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 113391450 | intron variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 113529488 | intron variant | C/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 |