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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2007 | 2017 | ||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 1 | 2008 | 2014 | ||||||||
|
0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 |
|
0.810 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.810 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 230242009 | intron variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2007 | 2010 | |||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 203857029 | intergenic variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 40490688 | intron variant | G/A | snv | 0.56 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 17461731 | missense variant | A/G | snv |
|
0.810 | 1.000 | 1 | 2006 | 2007 | |||||||||
|
0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.810 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 176119164 | missense variant | T/A | snv |
|
0.810 | 1.000 | 1 | 2004 | 2006 | |||||||||
|
0.925 | 0.080 | 2 | 20005953 | missense variant | A/T | snv |
|
0.810 | 1.000 | 1 | 2001 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 222297160 | missense variant | T/G | snv |
|
0.810 | 1.000 | 1 | 1993 | 2003 | |||||||||
|
0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv |
|
0.810 | 1.000 | 1 | 1976 | 2016 | |||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 1993 | 2017 | |||||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.810 | 1.000 | 1 | 1993 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 13854777 | missense variant | C/T | snv | 8.0E-06 |
|
0.810 | 1.000 | 1 | 2006 | 2011 | ||||||||
|
0.851 | 0.120 | 3 | 13819120 | missense variant | G/A | snv |
|
0.810 | 1.000 | 1 | 2006 | 2016 | |||||||||
|
0.925 | 0.120 | 4 | 17511987 | missense variant | C/T | snv | 1.4E-05 |
|
0.810 | 1.000 | 1 | 1990 | 2007 | ||||||||
|
1.000 | 0.080 | 5 | 143281905 | missense variant | A/G | snv |
|
0.810 | 1.000 | 1 | 1991 | 2019 |