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 | 0.120 | 8 | 89981417 | missense variant | G/A | snv | 5.8E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.120 | 8 | 89981412 | missense variant | C/A;G;T | snv | 1.7E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 17 | 18341299 | non coding transcript exon variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 50402283 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
18 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
17 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
13 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.030 | 0.333 | 3 | 2007 | 2017 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 0.500 | 2 | 2004 | 2011 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.600 | 10 | 2003 | 2017 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 0.667 | 3 | 2014 | 2019 | |||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 0.667 | 3 | 2005 | 2013 | ||||
|
4 | 0.851 | 0.120 | 10 | 22564019 | intron variant | C/A | snv | 0.55 | 0.030 | 0.667 | 3 | 2013 | 2016 | ||||
|
9 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 0.040 | 0.750 | 4 | 2013 | 2019 | ||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.070 | 0.857 | 7 | 2009 | 2019 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.070 | 0.857 | 7 | 2009 | 2017 |