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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
8 | 0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2008 | ||||
|
7 | 0.851 | 0.080 | 2 | 201217736 | missense variant | T/A | snv | 0.41 | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 2 | 25161630 | missense variant | G/C | snv | 8.6E-05 | 4.7E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 9 | 32422404 | intron variant | A/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 32409048 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 32372464 | intergenic variant | C/T | snv | 0.79 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.200 | 4 | 71735614 | intergenic variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 4 | 71769258 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 0.667 | 3 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.080 | 13 | 32384750 | non coding transcript exon variant | G/A | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 9 | 106298549 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 |