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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.040 | 1.000 | 4 | 2010 | 2016 | ||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.750 | 4 | 2004 | 2013 | |||
|
4 | 0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.875 | 8 | 2009 | 2015 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
22 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.742 | 0.360 | 18 | 62360008 | missense variant | C/T | snv | 0.54 | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
5 | 0.882 | 0.080 | 10 | 5960405 | missense variant | T/G | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.080 | 10 | 94279840 | missense variant | G/A;C | snv | 8.8E-05; 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.240 | 4 | 86785353 | missense variant | T/G | snv | 0.42 | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 4 | 125318831 | missense variant | C/G;T | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
7 | 0.807 | 0.120 | 6 | 36684562 | intron variant | C/A;G;T | snv | 8.0E-06; 0.37; 2.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | < 0.001 | 1 | 2017 | 2017 |