| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 7 | 22732641 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 96051770 | intergenic variant | C/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.807 | 0.120 | 13 | 29985289 | intergenic variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 4 | 73451012 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 30627473 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 75235116 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.927 | 41 | 2007 | 2018 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.927 | 41 | 2007 | 2018 | |||||||||
|
0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.160 | 9 | 35679254 | missense variant | A/G;T | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 11 | 44618361 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 16 | 68812244 | missense variant | C/G;T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |