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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 19 | 11107511 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 19 | 11107508 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 209714373 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.040 | 0.750 | 4 | 2005 | 2020 | |||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
3 | 0.882 | 0.120 | 2 | 27523965 | downstream gene variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 151020289 | upstream gene variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 88276856 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 17 | 78361310 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 88151548 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 16 | 67877614 | synonymous variant | T/C | snv | 0.23 | 0.32 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.080 | 16 | 53778702 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
7 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 6125723 | upstream gene variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.870 | 0.875 | 8 | 2008 | 2018 | |||||
|
2 | 1.000 | 0.040 | 9 | 127857358 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 9 | 4988761 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 8 | 19987865 | TF binding site variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 |