| 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 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.040 | 2 | 222202072 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 109963240 | synonymous variant | A/G | snv | 9.7E-03 | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 69941240 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 16 | 4681743 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2001 | 2014 | ||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 1 | 2002 | 2018 | |||||||||
|
0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 20 | 57266050 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 10 | 98425560 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 3 | 142566228 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 19 | 6836546 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 9 | 21757804 | intergenic variant | T/G | snv | 0.32 |
|
0.710 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 104831015 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 32854492 | intron variant | A/C | snv | 0.43 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 17 | 82374361 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.040 | 8 | 140664985 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 6 | 45422762 | synonymous variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 3 | 69965160 | missense variant | C/T | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 57749249 | missense variant | G/C;T | snv | 5.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 6 | 136698529 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 9 | 22008910 | missense variant | T/C | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 |