| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.730 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.710 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.710 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2015 | 2018 | |||||||||
|
0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.882 | 0.040 | 7 | 55067179 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 22 | 38081923 | synonymous variant | G/A | snv | 0.47 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.080 | 17 | 7675353 | 5 prime UTR variant | C/T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 20 | 63689615 | synonymous variant | T/C | snv | 0.74 | 0.81 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 81423306 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 67657500 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 243637661 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 24180881 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 3602208 | frameshift variant | CT/- | del |
|
0.700 | 0 |