| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 13 | 37601702 | upstream gene variant | T/C | snv | 5.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 22 | 50744085 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.040 | 9 | 92461698 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 20 | 46126219 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 20 | 46124597 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 13 | 110492105 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 157695436 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 32194075 | intron variant | G/A | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 6 | 32193589 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.080 | 0.875 | 8 | 2002 | 2019 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.020 | 0.500 | 2 | 2013 | 2019 | |||||||
|
0.790 | 0.360 | 1 | 206768184 | 3 prime UTR variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |