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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 0.750 | 8 | 2003 | 2019 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.070 | 0.857 | 7 | 2003 | 2019 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.040 | 0.750 | 4 | 2001 | 2011 | |||||
|
3 | 0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv | 0.810 | 1.000 | 4 | 2011 | 2014 | |||||
|
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 | 25436375 | intron variant | A/C;T | snv | 0.810 | 1.000 | 3 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 25390277 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 3 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.160 | 3 | 41719403 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 21902051 | 3 prime UTR variant | A/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.160 | 7 | 21909685 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
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 | |||||
|
1 | 1.000 | 0.160 | 7 | 106650672 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.160 | 3 | 41855990 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41821381 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
16 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 31139481 | intron variant | T/C | snv | 0.72 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 21875846 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 21899764 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
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 | 7 | 21898370 | intron variant | C/G;T | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.160 | 7 | 21888461 | intron variant | C/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2011 | 2015 |