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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 32954436 | synonymous variant | C/T | snv | 0.25 | 0.23 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 5 | 140635910 | upstream gene variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | 19 | 18086825 | 5 prime UTR variant | G/A | snv | 0.16 | 0.17 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 17 | 74773195 | non coding transcript exon variant | T/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 17 | 74770161 | downstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.120 | 11 | 112160357 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |