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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 7 | 7932654 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 45099523 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | < 0.001 | 2 | 2012 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 10 | 5098945 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | < 0.001 | 2 | 2012 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
4 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 2002 | 2016 | |||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
4 | 0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.100 | 1.000 | 13 | 2009 | 2018 | |||||
|
5 | 0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |