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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 196388616 | intron variant | A/C;G | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 120525054 | regulatory region variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.240 | 16 | 56608579 | upstream gene variant | A/C;G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 21 | 46153636 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 13 | 28312790 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 0.667 | 3 | 2004 | 2013 | ||||
|
9 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 196707805 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2016 | |||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 196382020 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196823334 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 1 | 186178506 | missense variant | A/G | snv | 7.3E-04 | 6.8E-04 | 0.050 | 1.000 | 5 | 2004 | 2007 | |||
|
1 | 1.000 | 0.040 | 10 | 122429681 | missense variant | A/G | snv | 0.68 | 0.69 | 0.730 | 0.750 | 4 | 2013 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 196691131 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 4 | 2011 | 2013 | ||||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.040 | 0.750 | 4 | 2014 | 2019 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.830 | 0.750 | 4 | 2012 | 2015 | |||
|
6 | 0.807 | 0.320 | 6 | 31951801 | 3 prime UTR variant | A/G | snv | 0.59 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196706441 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.020 | 0.500 | 2 | 2010 | 2013 | ||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.020 | 1.000 | 2 | 2015 | 2018 |