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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
10 | 0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
14 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 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 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 12 | 68162395 | intron variant | A/C | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2004 | 2014 | |||
|
4 | 0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 5 | 170813490 | 3 prime UTR variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.160 | 17 | 66214639 | missense variant | C/A;G | snv | 0.38; 4.0E-06; 4.0E-06 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | 5 | 170783993 | intron variant | A/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
14 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 |