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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 13 | 42101357 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.790 | 0.120 | 2 | 75137019 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.500 | 4 | 2008 | 2015 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.030 | 0.667 | 3 | 2005 | 2015 | |||
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 4 | 94299502 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 9 | 115094539 | intron variant | A/T | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 184084475 | downstream gene variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 2 | 9788024 | intergenic variant | G/A | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 22 | 22047895 | intron variant | C/T | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 18 | 49694188 | intergenic variant | T/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 3 | 186353656 | intron variant | G/A | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 14959860 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 9 | 10582445 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 33601810 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 19 | 47657765 | intron variant | G/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 8 | 56934154 | intergenic variant | C/T | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |