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 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
0.900 | 1.000 | 39 | 1998 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.900 | 1.000 | 35 | 1998 | 2019 | |||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
0.900 | 1.000 | 12 | 1999 | 2019 | |||||||||
|
0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 |
|
0.860 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv |
|
0.850 | 1.000 | 26 | 1998 | 2017 | |||||||||
|
0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.830 | 1.000 | 23 | 1998 | 2010 | ||||||||
|
0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv |
|
0.830 | 1.000 | 3 | 1999 | 2005 | |||||||||
|
0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv |
|
0.820 | 0.957 | 23 | 1998 | 2010 | |||||||||
|
0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 |
|
0.820 | 1.000 | 6 | 1999 | 2008 | ||||||||
|
0.827 | 0.160 | 17 | 46024010 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.820 | 1.000 | 6 | 1999 | 2002 | ||||||||
|
0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv |
|
0.810 | 1.000 | 21 | 1998 | 2010 | |||||||||
|
0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv |
|
0.810 | 1.000 | 5 | 1999 | 2002 | |||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.810 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.925 | 0.120 | 17 | 46018726 | missense variant | A/T | snv |
|
0.810 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.120 | 17 | 46014277 | missense variant | A/T | snv |
|
0.800 | 1.000 | 20 | 1998 | 2005 | |||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
0.800 | 1.000 | 12 | 2000 | 2019 | ||||||||
|
0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
0.800 | 1.000 | 11 | 2000 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
1.000 | 0.080 | 17 | 45929235 | intron variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45979401 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 17 | 45962351 | missense variant | G/A;T | snv | 6.0E-05 |
|
0.800 | 0 | |||||||||||
|
0.882 | 0.120 | 17 | 46010395 | missense variant | G/T | snv |
|
0.800 | 0 | ||||||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
0.760 | 1.000 | 6 | 2000 | 2019 | ||||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.730 | 0.750 | 4 | 2010 | 2012 |