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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.810 | 1.000 | 2 | 2008 | 2014 | ||||
|
2 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 1.000 | 0.040 | 12 | 40398498 | intron variant | G/A | snv | 3.1E-02 | 0.810 | 1.000 | 2 | 2010 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 132448701 | intron variant | G/T | snv | 0.28 | 0.810 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 0.851 | 0.160 | 7 | 50230076 | intron variant | G/A | snv | 0.69 | 0.810 | 1.000 | 2 | 2008 | 2011 | ||||
|
4 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.810 | 1.000 | 2 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.160 | 1 | 7819003 | intron variant | C/T | snv | 0.23 | 0.810 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.160 | 20 | 63718234 | intron variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2009 | 2010 | |||||
|
3 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.810 | 1.000 | 2 | 2008 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 4 | 38323415 | intergenic variant | T/C | snv | 0.15 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.280 | 6 | 32713151 | upstream gene variant | T/G | snv | 0.10 | 0.810 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 | 0.810 | 1.000 | 1 | 2013 | 2013 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.800 | 0.895 | 19 | 2004 | 2017 | ||||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.800 | 0.917 | 12 | 2006 | 2017 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.800 | 1.000 | 5 | 2006 | 2010 | |||
|
6 | 0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 | 0.800 | 1.000 | 5 | 2008 | 2017 | |||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.800 | 1.000 | 4 | 2008 | 2017 | ||||
|
12 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
7 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 19 | 46346549 | upstream gene variant | G/T | snv | 0.21 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 3 | 2010 | 2017 |