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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.807 | 0.080 | 11 | 65967703 | missense variant | G/C | snv | 0.46 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
14 | 0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2010 | 2018 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2016 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.040 | 14 | 35404564 | synonymous variant | G/A | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
22 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
13 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
8 | 0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.050 | 0.800 | 5 | 2013 | 2017 | |||
|
10 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 6 | 31165582 | missense variant | T/A | snv | 5.0E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |