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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||||
|
0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||
|
0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.807 | 0.200 | 12 | 69350192 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.120 | 18 | 31598631 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.080 | 2 | 8779781 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.080 | 16 | 3254658 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.040 | 1.000 | 4 | 2000 | 2005 | ||||||||
|
0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 2 | 162224488 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 |
|
0.020 | 1.000 | 2 | 2005 | 2006 | |||||||
|
0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 12 | 69353160 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.200 | 2 | 178112712 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 |
|
0.030 | 1.000 | 3 | 2002 | 2007 | |||||||
|
0.851 | 0.200 | 9 | 121321384 | synonymous variant | G/T | snv |
|
0.030 | 1.000 | 3 | 2002 | 2007 | |||||||||
|
0.925 | 0.080 | 6 | 43770990 | missense variant | G/A | snv | 1.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 |
|
0.030 | 1.000 | 3 | 2005 | 2009 | |||||||
|
0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2007 | 2009 |