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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
16 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.030 | 1.000 | 3 | 2010 | 2011 | |||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
14 | 0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 |