| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 3728852 | frameshift variant | GCTGGGTGAGA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.938 | 16 | 1995 | 2014 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.030 | 1.000 | 3 | 2003 | 2009 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2000 | 2003 | |||||||||
|
1.000 | 0.080 | 6 | 149793609 | missense variant | G/A | snv | 0.46 | 0.53 |
|
0.020 | 1.000 | 2 | 2006 | 2012 | |||||||
|
1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 14 | 36581342 | missense variant | C/T | snv | 9.1E-04 | 4.2E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 11 | 65856268 | 5 prime UTR variant | A/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 11 | 114312721 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 43143543 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 16 | 24906679 | missense variant | A/G | snv | 1.2E-03 | 7.9E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 19 | 18435586 | synonymous variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.200 | 5 | 7885846 | missense variant | A/G | snv | 0.18 | 0.21 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 222299799 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 15 | 58010689 | synonymous variant | T/C | snv | 8.4E-03 | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |