| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 35206195 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
19 | 41721077 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
15 | 51296650 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 8 | 42374268 | synonymous variant | G/A | snv | 0.14 | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2006 | 2019 | |||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
7 | 55173087 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |