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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.100 | 1.000 | 37 | 2006 | 2020 | |||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.100 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.740 | 1.000 | 5 | 2008 | 2020 | ||||||||
|
0.925 | 0.160 | 11 | 17395659 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 11 | 17463515 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.120 | 21 | 36135203 | missense variant | G/A;C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.842 | 38 | 1999 | 2019 | |||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.100 | 0.842 | 19 | 2003 | 2019 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.800 | 15 | 2000 | 2019 | |||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.800 | 1.000 | 13 | 2010 | 2019 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.060 | 0.667 | 6 | 2014 | 2019 | |||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.050 | 0.800 | 5 | 2014 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.050 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
0.030 | 1.000 | 3 | 2000 | 2019 | |||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
0.030 | 1.000 | 3 | 2007 | 2019 | |||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.030 | 0.333 | 3 | 2016 | 2019 | |||||||
|
0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 17387566 | missense variant | G/A | snv | 2.4E-05 | 7.7E-05 |
|
0.020 | 1.000 | 2 | 2004 | 2019 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 20 | 44406084 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2019 |