Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.020 | 1.000 | 2 | 2008 | 2008 | |||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
18 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
14 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
14 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
11 | 0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.200 | 1 | 241885375 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.120 | 17 | 58277848 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.200 | 9 | 36110066 | synonymous variant | T/A | snv | 0.32 | 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 |