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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 9 | 128122474 | missense variant | C/A;T | snv | 4.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 11 | 49175866 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 13 | 40553948 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.160 | 7 | 113878379 | missense variant | C/A | snv | 0.22 | 0.17 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.882 | 0.080 | 20 | 44351879 | non coding transcript exon variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.080 | X | 100594020 | synonymous variant | G/A | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 |