| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.240 | 11 | 94417624 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 10 | 94338336 | intron variant | T/C;G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 94332364 | 3 prime UTR variant | G/A | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 94311804 | intron variant | G/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 10 | 94310618 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.040 | 0.750 | 4 | 2012 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 94299521 | missense variant | C/T | snv | 7.6E-03 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||
|
0.882 | 0.080 | 10 | 94291660 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 94176622 | stop gained | T/A;C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 94130944 | missense variant | T/A;G | snv | 2.0E-05; 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 1 | 9151743 | mature miRNA variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.200 | 13 | 91354516 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 13 | 91353800 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 13 | 91353215 | intron variant | C/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 13 | 91352883 | intron variant | C/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 913286 | 3 prime UTR variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 912647 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 12 | 912349 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 15 | 90881744 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 15 | 90782869 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 15 | 90782869 | missense variant | C/A;G;T | snv | 4.0E-06; 5.6E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 13 | 90145678 | intergenic variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |