| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 0.875 | 8 | 2002 | 2017 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.030 | 0.333 | 3 | 2007 | 2013 | ||||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.080 | 0.750 | 8 | 2008 | 2015 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.040 | 1.000 | 4 | 2008 | 2019 | |||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 7 | 152678103 | upstream gene variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.020 | 0.500 | 2 | 2009 | 2019 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |