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 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 19 | 10830162 | missense variant | A/C | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 13 | 33013514 | upstream gene variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 4 | 69107204 | synonymous variant | A/C;G | snv | 4.0E-06; 6.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 6 | 154093311 | missense variant | A/C;T | snv | 2.8E-05; 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.100 | 0.979 | 47 | 2004 | 2019 | |||
|
5 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 0.050 | 1.000 | 5 | 2009 | 2019 | |||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.040 | 1.000 | 4 | 2010 | 2018 | |||
|
10 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 2 | 166325017 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.120 | 3 | 88809891 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 46429969 | upstream gene variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 |