Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 20 | 63668461 | intron variant | T/C | snv | 0.99 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 3 | 195751990 | non coding transcript exon variant | A/G | snv | 0.95 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 22 | 23775729 | intron variant | A/G | snv | 0.92 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 9 | 108884801 | intron variant | T/C | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 2 | 203251967 | missense variant | C/T | snv | 0.94 | 0.89 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 20 | 21354475 | intron variant | T/C | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 17 | 19377693 | intron variant | A/C;T | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.776 | 0.200 | 11 | 122146306 | intron variant | C/A | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 8 | 23191779 | missense variant | C/T | snv | 0.88 | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 8 | 133230265 | 3 prime UTR variant | G/T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 7 | 27202260 | non coding transcript exon variant | CT/- | delins | 0.85 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.020 | 0.500 | 2 | 2007 | 2015 | |||||||
|
0.882 | 0.080 | 3 | 195808743 | intron variant | G/T | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 3 | 195806461 | intron variant | C/T | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.160 | 7 | 17328796 | intron variant | T/C | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 5 | 83677577 | intron variant | T/C | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 6 | 167016994 | intron variant | T/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 6 | 111299555 | 3 prime UTR variant | G/A | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 100252204 | non coding transcript exon variant | C/G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.240 | 22 | 23779191 | missense variant | C/T | snv | 0.84 | 0.80 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 |