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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 10 | 100989280 | missense variant | G/A;C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 9 | 106927699 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | |||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.807 | 0.280 | 18 | 12325970 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
18 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 7 | 19116970 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
7 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
33 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 |