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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2011 | 2016 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.070 | 0.857 | 7 | 2001 | 2017 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
14 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2019 |