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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 7 | 2010 | 2018 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 6 | 2009 | 2018 | |||||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.730 | 1.000 | 5 | 2010 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2005 | 2020 | |||||
|
3 | 0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2018 | |||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.720 | 1.000 | 3 | 2015 | 2019 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
6 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
8 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
10 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2011 | 2011 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2004 | ||||
|
1 | 1.000 | 0.120 | 2 | 67412637 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 | 0.710 | 0.500 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 28904318 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 40827064 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 1 | 200016240 | upstream gene variant | T/A | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.120 | 5 | 1295258 | upstream gene variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
7 | 0.827 | 0.160 | 1 | 200041696 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 130995762 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2018 |