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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 94470587 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 6 | 151597721 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.120 | 19 | 17282085 | missense variant | G/A | snv | 0.47 | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
2 | 0.925 | 0.080 | 17 | 43063889 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 43063911 | synonymous variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 2 | 47791055 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 2 | 47799482 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 19 | 50401817 | missense variant | G/A | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 5 | 80854162 | missense variant | A/G;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 16 | 13935425 | missense variant | T/C | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |