| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | X | 118542729 | missense variant | A/C | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 9 | 121302059 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 1991 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
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 | |||||||||
|
1.000 | 0.040 | 9 | 121327419 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.120 | 1 | 159588626 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 162224488 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
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 | ||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |