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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 | 0.700 | 0 | ||||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 0 | ||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.050 | 1.000 | 5 | 2010 | 2020 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.851 | 0.080 | 9 | 34637693 | missense variant | T/G | snv | 0.20 | 0.18 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 6 | 154039743 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 11 | 14972978 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 16 | 1208033 | missense variant | G/T | snv | 7.3E-03 | 7.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.040 | 16 | 1204313 | missense variant | C/T | snv | 4.3E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 16 | 57385374 | downstream gene variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 6 | 154039497 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 |