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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2011 | 2018 | |||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.090 | 1.000 | 9 | 2012 | 2018 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.050 | 0.200 | 5 | 2012 | 2017 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2020 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2016 | 2016 |