| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 120978862 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||||
|
1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 17427157 | splice region variant | G/A | snv | 0.44 | 0.37 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv |
|
0.710 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 11 | 17387103 | missense variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | ||||||||
|
1 | 206112629 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 7281773 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 17 | 7285694 | intron variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |