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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.040 | 12 | 10160535 | non coding transcript exon variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
6 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 8 | 104248720 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.160 | 9 | 104825752 | missense variant | C/T | snv | 8.2E-02 | 5.5E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.030 | 1.000 | 3 | 2003 | 2014 | |||
|
3 | 0.882 | 0.040 | 7 | 106769006 | intron variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 10813762 | intron variant | G/A | snv | 0.61 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.040 | 3 | 108428881 | missense variant | T/A;C | snv | 4.3E-06; 0.24 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.120 | 12 | 108624122 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 19 | 11105488 | frameshift variant | AGCCCCT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 |