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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 0.967 | 30 | 2007 | 2017 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.890 | 1.000 | 13 | 2008 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.870 | 1.000 | 13 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.090 | 1.000 | 9 | 2007 | 2017 | ||||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.080 | 0.875 | 8 | 2010 | 2019 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.770 | 1.000 | 8 | 2011 | 2019 | |||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.830 | 1.000 | 7 | 2008 | 2016 | ||||
|
10 | 0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 | 0.840 | 1.000 | 7 | 2008 | 2017 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.830 | 1.000 | 6 | 2009 | 2017 | |||||
|
6 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.060 | 1.000 | 6 | 2006 | 2017 | ||||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.830 | 1.000 | 6 | 2009 | 2017 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.850 | 1.000 | 6 | 2008 | 2017 | ||||
|
6 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 0.820 | 1.000 | 6 | 2008 | 2013 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.740 | 1.000 | 6 | 2008 | 2017 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.730 | 1.000 | 6 | 2009 | 2018 | ||||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.840 | 1.000 | 6 | 2009 | 2019 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.050 | 1.000 | 5 | 2008 | 2013 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 5 | 2015 | 2018 | ||||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.050 | 0.400 | 5 | 2012 | 2016 | ||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.120 | 11 | 589564 | intron variant | T/C | snv | 0.64 | 0.830 | 1.000 | 5 | 2008 | 2012 | ||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.050 | 0.600 | 5 | 2007 | 2017 |