Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 11 | 105030337 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.040 | 4 | 23795829 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.040 | 15 | 43883735 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |