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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.830 | 1.000 | 4 | 2009 | 2015 | |||||
|
2 | 0.925 | 0.200 | 6 | 137684378 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2011 | 2016 | |||||
|
9 | 0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 3 | 2011 | 2016 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 0.667 | 3 | 1998 | 2015 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2008 | 2010 | |||||
|
12 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.080 | 10 | 6348230 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2012 | |||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 61326191 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2016 | |||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 90099920 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2012 | |||||
|
7 | 0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2010 | 2014 | |||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
2 | 0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.240 | 17 | 7559238 | missense variant | G/A;C | snv | 0.13; 4.2E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |