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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
3 | 0.925 | 0.120 | 13 | 40659794 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1999 | 1999 | ||||
|
6 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 22 | 32110063 | missense variant | C/G;T | snv | 4.8E-02; 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 9 | 21988897 | intron variant | C/T | snv | 0.86 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 9 | 22010413 | intron variant | A/G | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.080 | 11 | 17387413 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |