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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 10 | 100186688 | upstream gene variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 100725310 | intron variant | A/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | |||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.160 | 7 | 101137079 | missense variant | C/A;T | snv | 4.0E-06; 3.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 10159692 | 3 prime UTR variant | A/T | snv | 7.4E-02 | 0.700 | 0 | |||||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.720 | 1.000 | 2 | 2003 | 2004 | |||
|
13 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 12 | 102408461 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 12 | 102419854 | intron variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 12 | 102465038 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 102832897 | non coding transcript exon variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.120 | 11 | 102836574 | non coding transcript exon variant | G/A;T | snv | 0.12; 6.7E-06 | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.040 | 0.750 | 4 | 2006 | 2018 | |||
|
4 | 0.882 | 0.240 | 11 | 102875064 | upstream gene variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.200 | 10 | 102959339 | intron variant | G/A | snv | 9.0E-02 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 103798234 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 8 | 104248720 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2004 | 2004 |