| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 21 | 42363329 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 112838233 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 12 | 109903156 | missense variant | T/C | snv | 6.5E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 1223035 | missense variant | C/G;T | snv | 9.2E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 5 | 112839106 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 113131082 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 |