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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 17 | 39929469 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.240 | 21 | 44227538 | 3 prime UTR variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 17 | 39966427 | missense variant | G/A;C;T | snv | 4.1E-04; 4.2E-06; 0.52 |
|
0.820 | 0.750 | 1 | 2011 | 2015 | ||||||||
|
0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 10 | 51733713 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv |
|
0.740 | 1.000 | 1 | 2008 | 2018 | |||||||||
|
1.000 | 0.080 | 17 | 39950346 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.200 | 17 | 39924659 | intron variant | G/A;C | snv |
|
0.730 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2019 | |||||||||
|
1.000 | 0.080 | 17 | 39917778 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 17 | 39665182 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 13 | 59245009 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.200 | 8 | 128252343 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 9 | 6209697 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2010 | 2019 | |||||||||
|
0.925 | 0.120 | 16 | 50729867 | missense variant | G/A;C | snv | 4.0E-06; 1.5E-02 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 202495632 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 12 | 107562472 | intron variant | G/T | snv | 4.2E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 12359827 | intron variant | G/A | snv | 3.7E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |