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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 108209596 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.020 | < 0.001 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 140806604 | intron variant | T/A | snv | 5.5E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.360 | 17 | 35880776 | 5 prime UTR variant | C/T | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 5 | 150156062 | upstream gene variant | A/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 139537051 | missense variant | C/T | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 2 | 102153326 | intron variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 0.500 | 2 | 2009 | 2011 | |||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2019 | |||||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.080 | 0.750 | 8 | 2011 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.040 | 0.750 | 4 | 2008 | 2018 | |||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.100 | 0.833 | 12 | 2010 | 2019 | ||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.070 | 0.857 | 7 | 2004 | 2019 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.100 | 0.917 | 12 | 2011 | 2017 |