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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.770 | 0.875 | 8 | 2003 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 0.750 | 8 | 2003 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 1.000 | 7 | 2000 | 2019 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.833 | 6 | 2009 | 2019 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.050 | 1.000 | 5 | 2012 | 2018 | |||
|
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 | |||||
|
2 | 0.925 | 0.160 | 3 | 41883906 | missense variant | C/G;T | snv | 0.80 | 0.810 | 1.000 | 3 | 2011 | 2014 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 0.667 | 3 | 2003 | 2008 | |||
|
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 | 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 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.730 | 1.000 | 3 | 2000 | 2011 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.810 | 1.000 | 2 | 2013 | 2014 | |||
|
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 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
1 | 1.000 | 0.160 | 7 | 21909685 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 21892426 | missense variant | C/G;T | snv | 1.8E-04; 0.39 | 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 | 3 | 41789711 | missense variant | C/A;T | snv | 0.12 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 106650672 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2016 | 2018 |