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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.100 | 0.947 | 19 | 2001 | 2015 | ||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2002 | 2007 | |||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2001 | 2005 | |||||
|
2 | 0.925 | 0.080 | 5 | 132073916 | synonymous variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2005 | ||||
|
6 | 0.827 | 0.080 | 17 | 44915083 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
2 | 0.925 | 0.040 | 11 | 65079421 | stop lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 2 | 74378104 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 11 | 119420222 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 15 | 66485125 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 0.925 | 0.080 | 14 | 92931340 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 16 | 31261756 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 2 | 201761816 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 2 | 70087836 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 9 | 134886483 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 17 | 4946742 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 10 | 95341599 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 17 | 45987045 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 14968884 | missense variant | C/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |