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 | 0.925 | 0.120 | 16 | 50791689 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2003 | 2006 | |||||
|
8 | 0.807 | 0.200 | 16 | 50796443 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 16 | 50792627 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.200 | 10 | 129527035 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 10 | 129468206 | intron variant | T/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 0.120 | 7 | 55155928 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 17 | 7673764 | frameshift variant | CC/T | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.160 | 12 | 114236456 | downstream gene variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 2 | 20678646 | 3 prime UTR variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.240 | 18 | 51076662 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 81529460 | missense variant | G/A | snv | 1.2E-04 | 4.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 |