Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 | 0.720 | 1.000 | 3 | 2010 | 2016 | ||||
|
3 | 0.882 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.040 | 1.000 | 4 | 2003 | 2017 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 1.000 | 8 | 2010 | 2015 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2014 | |||||
|
8 | 0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 10 | 102901727 | 3 prime UTR variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.070 | 0.857 | 7 | 2007 | 2014 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
9 | 0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.160 | 8 | 89934373 | 3 prime UTR variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |