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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 6 | 2009 | 2013 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 8 | 2008 | 2013 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 4 | 2009 | 2013 | |||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2012 |