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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.040 | 1.000 | 4 | 2011 | 2018 | |||
|
4 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
5 | 0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 | 0.040 | 1.000 | 4 | 2007 | 2019 | ||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2010 | 2015 | |||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2010 | 2012 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
11 | 0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||
|
3 | 0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2014 | |||||
|
4 | 0.851 | 0.160 | 10 | 102901727 | 3 prime UTR variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
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 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
5 | 0.827 | 0.160 | 10 | 102900499 | non coding transcript exon variant | G/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.020 | 1.000 | 2 | 2007 | 2019 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
3 | 0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2015 |