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 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 7 | 129210997 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 5 | 87349304 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 87349309 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 87349312 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.200 | 16 | 23635095 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 0.700 | 0 | |||||||
|
22 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 0.667 | 3 | 1999 | 2005 | ||||
|
5 | 0.925 | 0.160 | 12 | 57470802 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.040 | 19 | 45395856 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
11 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 1999 | 2006 | ||||
|
6 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
8 | 0.827 | 0.080 | 16 | 89919436 | missense variant | G/T | snv | 8.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.040 | 9 | 95485797 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |