| 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 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | |||||||
|
0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 |
|
0.770 | 0.889 | 7 | 2010 | 2017 | ||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.760 | 1.000 | 6 | 2008 | 2015 | |||||||||
|
0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 |
|
0.740 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv |
|
0.730 | 0.750 | 3 | 2010 | 2015 | |||||||||
|
0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv |
|
0.730 | 1.000 | 3 | 2011 | 2014 | |||||||||
|
0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.720 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.720 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 |
|
0.720 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 |
|
0.710 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.882 | 0.120 | 15 | 74619987 | missense variant | G/A;T | snv | 0.11 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.710 | 0.667 | 1 | 2010 | 2014 | ||||||||
|
0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.615 | 13 | 2004 | 2016 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.100 | 1.000 | 11 | 2005 | 2016 | |||||||
|
0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 |
|
0.100 | 1.000 | 10 | 2006 | 2016 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.090 | 0.889 | 9 | 2005 | 2013 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 1.000 | 8 | 2010 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 1.000 | 8 | 2007 | 2014 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.080 | 1.000 | 8 | 2001 | 2019 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.080 | 0.750 | 8 | 2008 | 2016 | |||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.080 | 1.000 | 8 | 2007 | 2014 |