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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 46795404 | intron variant | A/C | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 15 | 34605865 | intergenic variant | A/C | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 13 | 28301652 | 3 prime UTR variant | A/C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 1 | 196718600 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 12 | 61992819 | intron variant | A/C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 16 | 82687819 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 11 | 86733719 | intron variant | A/C;G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 83811073 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.040 | 15 | 78447421 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 31575287 | upstream gene variant | A/C;G | snv | 7.0E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 1 | 196721120 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 21 | 34289445 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 102816969 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 17 | 71077504 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 11 | 102821364 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.740 | 1.000 | 6 | 2011 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.050 | 1.000 | 5 | 2004 | 2013 | |||
|
7 | 0.925 | 0.040 | 4 | 144565237 | intron variant | A/G | snv | 0.33 | 0.830 | 1.000 | 4 | 2010 | 2017 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.040 | 1.000 | 4 | 2004 | 2017 |