| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv |
|
0.700 | 1.000 | 30 | 1997 | 2015 | |||||||||
|
0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 1.000 | 16 | 2000 | 2014 | ||||||||
|
0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 15 | 1999 | 2015 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 14 | 2000 | 2011 | |||||||||
|
0.882 | 0.120 | 7 | 150951507 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 14 | 1998 | 2016 | |||||||||
|
0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv |
|
0.710 | 1.000 | 14 | 1999 | 2014 | |||||||||
|
0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 13 | 1997 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 150974920 | missense variant | T/G | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 150951555 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1999 | 2015 | |||||||||
|
0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 |
|
0.700 | 1.000 | 12 | 2000 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 2776006 | stop gained | C/A;T | snv |
|
0.710 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 11 | 1996 | 2012 | |||||||||
|
0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv |
|
0.720 | 0.917 | 11 | 1998 | 2019 | |||||||||
|
0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 11 | 1997 | 2015 | |||||||||
|
0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv |
|
0.710 | 1.000 | 11 | 2004 | 2016 | |||||||||
|
1.000 | 0.120 | 11 | 2572846 | missense variant | GA/TT | mnv |
|
0.700 | 1.000 | 10 | 1999 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv |
|
0.710 | 1.000 | 9 | 2009 | 2016 | |||||||||
|
0.882 | 0.120 | 11 | 2587630 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-04 |
|
0.710 | 1.000 | 9 | 2007 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 2777000 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 9 | 2005 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 150974851 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 9 | 1999 | 2015 | |||||||||
|
0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 9 | 1998 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 150974809 | missense variant | T/C | snv |
|
0.700 | 1.000 | 9 | 1999 | 2014 | |||||||||
|
0.925 | 0.120 | 11 | 2570719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 8 | 1996 | 2014 | ||||||||
|
0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 8 | 1995 | 2013 | |||||||||
|
0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv |
|
0.770 | 1.000 | 8 | 1996 | 2019 |