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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 | 0.720 | 1.000 | 5 | 2013 | 2017 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2008 | 2018 | |||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.720 | 1.000 | 5 | 2013 | 2017 | ||||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.730 | 1.000 | 5 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 127279485 | intron variant | G/A | snv | 0.73 | 0.740 | 0.800 | 5 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.080 | 1 | 10506158 | intron variant | A/G | snv | 0.27 | 0.710 | 1.000 | 5 | 2013 | 2017 | ||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.050 | 1.000 | 5 | 2009 | 2019 | ||||
|
4 | 0.925 | 0.080 | 8 | 128182395 | intron variant | C/T | snv | 0.13 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 30641447 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 19121042 | intron variant | T/A;C | snv | 0.710 | 1.000 | 4 | 2013 | 2017 | |||||
|
6 | 0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 4 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 80616908 | intron variant | A/G | snv | 0.35 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.080 | 12 | 95633983 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 4 | 2013 | 2017 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.040 | 0.750 | 4 | 2012 | 2019 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.040 | 1.000 | 4 | 2012 | 2015 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.080 | 19 | 18460331 | intron variant | A/G | snv | 0.45 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.080 | 22 | 40480230 | intron variant | T/C | snv | 0.12 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
4 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
9 | 0.763 | 0.240 | 10 | 113014168 | intron variant | A/G | snv | 0.55 | 0.710 | 1.000 | 4 | 2013 | 2018 | ||||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.040 | 0.750 | 4 | 2015 | 2018 | ||||
|
2 | 0.925 | 0.080 | 14 | 91374725 | intron variant | A/G | snv | 0.46 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 105163621 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
4 | 0.851 | 0.120 | 14 | 68564567 | intron variant | T/A;C | snv | 0.030 | 0.667 | 3 | 2010 | 2019 |