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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
6 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.807 | 0.240 | 4 | 15824935 | missense variant | C/A;T | snv | 8.0E-06; 4.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 17 | 16960324 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 4719290 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2015 |