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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 19 | 38287929 | missense variant | C/T | snv | 1.6E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 9 | 35674104 | synonymous variant | T/C | snv | 0.14 | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.240 | 7 | 37907562 | missense variant | G/T | snv | 0.44 | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 7 | 37907501 | missense variant | C/T | snv | 0.20 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 9 | 134442243 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |