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 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.040 | 1.000 | 4 | 2006 | 2013 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.030 | 0.667 | 3 | 2003 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 0.333 | 3 | 2007 | 2013 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.030 | 1.000 | 3 | 2002 | 2009 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
5 | 0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 0.333 | 3 | 2002 | 2009 | |||
|
11 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
10 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
13 | 0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
4 | 0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2001 | 2013 | |||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.020 | 0.500 | 2 | 2010 | 2013 | |||
|
5 | 0.827 | 0.240 | 10 | 14383222 | mature miRNA variant | G/C;T | snv | 4.9E-03 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
15 | 0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 94171330 | missense variant | G/A;T | snv | 3.2E-05; 0.17 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 0.500 | 2 | 2010 | 2014 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.020 | 1.000 | 2 | 2010 | 2010 | |||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.020 | 1.000 | 2 | 2014 | 2015 |