| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 197820885 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 71119005 | intron variant | T/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | X | 149456568 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 127522409 | intergenic variant | G/A | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.851 | 0.200 | 22 | 40056115 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.160 | 6 | 160412632 | intron variant | C/T | snv | 0.21 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 87103019 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 8 | 127462940 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | X | 67711405 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.830 | 1.000 | 0 | 2002 | 2010 | |||||||||
|
1.000 | 0.080 | 5 | 75596434 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 75596885 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 75596726 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 75573739 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 107394019 | intergenic variant | C/T | snv | 0.81 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.240 | 19 | 38244973 | intron variant | C/T | snv | 0.40 |
|
0.710 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 |
|
0.700 | 0 |