| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | X | 118542729 | missense variant | A/C | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 8 | 27604964 | missense variant | A/C;G | snv | 0.64 | 0.60 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv |
|
0.030 | 1.000 | 3 | 2003 | 2019 | |||||||||
|
0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||||
|
0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2010 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
0.030 | 1.000 | 3 | 1994 | 2018 | |||||||||
|
0.925 | 0.080 | 16 | 3254658 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 |
|
0.020 | 1.000 | 2 | 2005 | 2006 | |||||||
|
0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||
|
1.000 | 0.040 | 18 | 31592996 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 21 | 26112051 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.040 | 1.000 | 4 | 2000 | 2005 | ||||||||
|
0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.050 | 0.600 | 5 | 2013 | 2017 |