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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
171 | 0.463 | 0.679 | 11 | 27658369 | missense variant | C/T | snp | 0.19 | 0.15 | 0.100 | 0.923 | 13 | 2006 | 2017 | |||
|
157 | 0.471 | 0.679 | 11 | 27658456 | missense variant | C/T | snp | 1.2E-05 | 0.100 | 0.917 | 12 | 2006 | 2017 | ||||
|
47 | 0.630 | 0.321 | 12 | 40340400 | missense variant | G/A | snp | 5.3E-04 | 1.9E-04 | 0.040 | 1.000 | 4 | 2010 | 2018 | |||
|
155 | 0.484 | 0.821 | 22 | 19963748 | missense variant | G/A | snp | 0.46 | 0.45 | 0.030 | 1.000 | 3 | 2006 | 2014 | |||
|
31 | 0.679 | 0.250 | 4 | 89828149 | missense variant | C/T | snp | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
9 | 0.801 | 0.107 | 14 | 73206470 | missense variant | A/G | snp | 1.5E-02 | 1.7E-02 | 0.020 | 1.000 | 2 | 2002 | 2014 | |||
|
77 | 0.543 | 0.679 | 3 | 12351626 | missense variant | C/G | snp | 0.11 | 1.0E-01 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
75 | 0.545 | 0.679 | 3 | 12379739 | missense variant | C/G | snp | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
18 | 0.734 | 0.107 | 12 | 40310434 | missense variant | C/A,G,T | snp | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
8 | 0.821 | 0.107 | 21 | 25897627 | missense variant | C/T | snp | 8.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2012 | ||||
|
9 | 0.821 | 0.107 | 21 | 25897626 | missense variant | T/A | snp | 0.020 | 1.000 | 2 | 2005 | 2012 | |||||
|
18 | 0.734 | 0.107 | 17 | 46010324 | missense variant | T/G | snp | 2.6E-05 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
6 | 0.801 | 0.143 | 21 | 25897620 | missense variant | C/T | snp | 4.5E-04 | 7.6E-04 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
17 | 0.734 | 0.143 | 20 | 4699525 | missense variant | C/T | snp | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
5 | 0.923 | 0.036 | 6 | 15656839 | intron variant | G/A | snp | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.662 | 0.500 | 11 | 534286 | missense variant | C/A,G,T | snp | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
31 | 0.634 | 0.500 | 11 | 534289 | missense variant | C/A,G,T | snp | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.784 | 0.179 | 19 | 44899792 | intron variant | CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT/C. | microsatellite | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
53 | 0.575 | 0.607 | 1 | 196690107 | missense variant | C/T | snp | 0.68 | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.036 | 11 | 27673917 | intron variant | A/G | snp | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.744 | 0.179 | 8 | 27607002 | intron variant | T/C | snp | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.878 | 0.143 | 1 | 45332409 | missense variant | A/C | snp | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.878 | 0.143 | 6 | 3010156 | missense variant | C/T | snp | 0.79 | 0.85 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.036 | 11 | 27736075 | intron variant | A/G | snp | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.036 | 19 | 44899959 | intron variant | C/T | snp | 2.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |