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 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 133275531 | missense variant | A/G | snv | 0.89 | 0.90 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 19 | 43777410 | intron variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 16 | 83956331 | intron variant | C/G | snv | 0.85 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 10 | 133263019 | 3 prime UTR variant | C/A | snv | 0.87 | 0.83 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
8 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 22 | 19991035 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.040 | 1.000 | 4 | 2003 | 2011 | |||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 17 | 7015774 | splice region variant | T/C | snv | 0.80 | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.240 | 1 | 197061891 | missense variant | C/T | snv | 0.88 | 0.76 | 0.020 | 1.000 | 2 | 2007 | 2015 | |||
|
5 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 0.740 | 1.000 | 4 | 2011 | 2011 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.810 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | < 0.001 | 1 | 2016 | 2016 |