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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.800 | 0.960 | 25 | 2008 | 2018 | |||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.800 | 0.857 | 21 | 2008 | 2017 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.800 | 1.000 | 20 | 2010 | 2015 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 17 | 2008 | 2018 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.770 | 1.000 | 7 | 2011 | 2019 | |||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.760 | 1.000 | 8 | 2008 | 2017 | ||||
|
10 | 0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 | 0.750 | 1.000 | 7 | 2008 | 2014 | ||||
|
5 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 6 | 2011 | 2015 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.750 | 0.800 | 5 | 2014 | 2018 | |||
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.740 | 1.000 | 7 | 2008 | 2014 | |||||
|
8 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.740 | 1.000 | 6 | 2009 | 2017 | ||||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.740 | 1.000 | 6 | 2009 | 2020 | ||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.730 | 1.000 | 5 | 2009 | 2012 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
9 | 0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
5 | 0.827 | 0.120 | 6 | 27721723 | intergenic variant | G/A | snv | 0.27 | 0.720 | 1.000 | 3 | 2008 | 2014 | ||||
|
9 | 0.776 | 0.120 | 22 | 30202563 | intron variant | C/G | snv | 0.25 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.720 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.776 | 0.120 | 13 | 23719720 | regulatory region variant | A/G | snv | 0.50 | 0.720 | 1.000 | 2 | 2011 | 2019 | ||||
|
8 | 0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 | 0.710 | 1.000 | 4 | 2008 | 2012 | ||||
|
10 | 0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 | 0.710 | 1.000 | 4 | 2008 | 2012 | ||||
|
8 | 0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2009 | 2012 | |||||
|
7 | 0.851 | 0.080 | 15 | 78604205 | intron variant | G/A | snv | 0.72 | 0.710 | 1.000 | 3 | 2009 | 2016 | ||||
|
8 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.710 | 1.000 | 2 | 2009 | 2017 | ||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 |