| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | 9 | 22006021 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | 12 | 102402539 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 2 | 216180336 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 22 | 41629346 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 2 | 216128888 | intron variant | C/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 13 | 108215053 | intron variant | A/G | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |