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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.850 | 20 | 2006 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.824 | 17 | 2006 | 2019 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.060 | 0.833 | 6 | 2008 | 2019 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.050 | 0.800 | 5 | 2008 | 2019 | ||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.080 | 0.750 | 8 | 2010 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 183227583 | missense variant | G/A;C | snv | 1.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.030 | 0.667 | 3 | 2011 | 2012 | ||||
|
3 | 0.925 | 0.040 | 17 | 45793781 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 17 | 30228407 | intron variant | G/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.030 | 0.667 | 3 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 18019049 | 3 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2013 | 2019 | |||||
|
2 | 0.925 | 0.120 | 7 | 31095890 | intron variant | C/G | snv | 0.47 | 0.050 | 0.800 | 5 | 2013 | 2017 | ||||
|
3 | 0.882 | 0.160 | 15 | 60832754 | intron variant | T/G | snv | 0.44 | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 187949717 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 60072226 | missense variant | G/T | snv | 7.2E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.851 | 0.160 | 17 | 45777136 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 129946705 | intron variant | G/A | snv | 6.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 60074815 | synonymous variant | G/A | snv | 7.2E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 1 | 25908492 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |