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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 1.000 | 11 | 2003 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.800 | 5 | 2004 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.050 | 0.800 | 5 | 2004 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.050 | 0.800 | 5 | 2004 | 2017 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.040 | 0.750 | 4 | 2009 | 2017 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.020 | 0.500 | 2 | 2009 | 2016 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2007 | |||||
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
9 | 0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 7 | 5880922 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 21 | 45531748 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 21 | 45537803 | synonymous variant | G/A | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 21 | 45531982 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |