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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
5 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.851 | 0.040 | 15 | 38555562 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 11 | 64350711 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 17 | 55977164 | intron variant | A/C | snv | 4.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 3 | 106229671 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.040 | 12 | 56023144 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 4 | 122262050 | intron variant | A/C;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.040 | 4 | 122473886 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 8 | 128252343 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 5 | 103342219 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 16 | 11364614 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |