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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 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 | 2014 | 2014 | |||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 1 | 43671586 | missense variant | C/A;G;T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.851 | 0.200 | 1 | 186681714 | upstream gene variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.080 | 2 | 8776852 | missense variant | C/A;T | snv | 2.0E-05 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 10122697 | synonymous variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 201190589 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.080 | 2 | 56019205 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
10 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 |