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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
2 | 1.000 | 0.040 | 12 | 1727813 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 12 | 1707447 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 5 | 60487490 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 3436916 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 113123195 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 65614315 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 13 | 65631572 | intergenic variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 10 | 80166946 | missense variant | G/A;C | snv | 0.42; 4.2E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 13 | 113149170 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 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 | 2010 | 2010 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
6 | 0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |