| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
5 | 112767315 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
17 | 7675224 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 |