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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.100 | 0.938 | 16 | 2015 | 2020 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.100 | 0.833 | 12 | 2014 | 2019 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.090 | 1.000 | 9 | 2011 | 2019 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.090 | 1.000 | 9 | 2009 | 2017 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.070 | 0.571 | 7 | 2016 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.070 | 0.857 | 7 | 2009 | 2018 | ||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.060 | 1.000 | 6 | 2012 | 2016 | ||||
|
4 | 0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.050 | 0.800 | 5 | 2013 | 2015 | |||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.040 | 1.000 | 4 | 2007 | 2018 | ||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2016 | 2019 | |||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.040 | 1.000 | 4 | 2008 | 2017 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 0.750 | 4 | 2007 | 2018 | ||||
|
22 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 0.040 | 0.750 | 4 | 2016 | 2019 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.040 | 1.000 | 4 | 2017 | 2019 | ||||
|
9 | 0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv | 0.040 | 0.500 | 4 | 2016 | 2019 | |||||
|
13 | 0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 | 0.030 | 0.333 | 3 | 2012 | 2016 | ||||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
16 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 0.030 | 0.667 | 3 | 2016 | 2017 | |||||
|
12 | 0.776 | 0.320 | 3 | 159988493 | intron variant | T/G | snv | 0.10 | 0.030 | 0.667 | 3 | 2009 | 2017 | ||||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.030 | 1.000 | 3 | 2011 | 2015 | |||
|
11 | 0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 | 0.030 | 0.667 | 3 | 2018 | 2020 | ||||
|
11 | 0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
3 | 1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins | 0.030 | 1.000 | 3 | 2014 | 2016 |