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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv | 0.810 | 1.000 | 4 | 2011 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 41883906 | missense variant | C/G;T | snv | 0.80 | 0.810 | 1.000 | 3 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 25436375 | intron variant | A/C;T | snv | 0.810 | 1.000 | 3 | 2011 | 2014 | |||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.810 | 1.000 | 2 | 2013 | 2014 | |||
|
2 | 0.925 | 0.160 | 6 | 31139481 | intron variant | T/C | snv | 0.72 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.160 | 22 | 39146287 | intron variant | G/A | snv | 0.43 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.160 | 3 | 41954644 | missense variant | T/C | snv | 0.79 | 0.67 | 0.800 | 1.000 | 3 | 2011 | 2013 | |||
|
1 | 1.000 | 0.160 | 3 | 41744517 | intron variant | T/C | snv | 0.32 | 0.800 | 1.000 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 2 | 25390277 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 3 | 2011 | 2016 | ||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.160 | 22 | 39123191 | intron variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 7 | 21888461 | intron variant | C/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.160 | 3 | 41950916 | intron variant | G/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
4 | 0.851 | 0.160 | 3 | 41709497 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.160 | 3 | 41786808 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.160 | 10 | 71007652 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 10 | 96880089 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 4 | 180047278 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 8 | 9935152 | intergenic variant | G/A | snv | 0.54 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 17 | 40023239 | synonymous variant | A/G | snv | 0.39 | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.160 | 5 | 22812155 | intron variant | T/C | snv | 0.53 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.770 | 0.875 | 8 | 2003 | 2019 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.730 | 1.000 | 3 | 2000 | 2011 |