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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 8 | 18064458 | missense variant | T/C;G | snv | 5.8E-05 | 0.700 | 0 | |||||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 10 | 62813835 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.120 | 11 | 35308068 | intron variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 18358030 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 11 | 13272293 | upstream gene variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 12 | 40319998 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
13 | 0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.160 | 12 | 51806336 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 15 | 67744514 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |