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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.040 | 1.000 | 4 | 2009 | 2014 | |||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2010 | 2012 | |||||
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2009 | 2014 | |||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
19 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.030 | 1.000 | 3 | 2007 | 2015 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2011 | 2014 | |||||
|
6 | 0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 0.667 | 3 | 1993 | 2019 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
11 | 0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2013 | |||||
|
12 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2011 | ||||
|
8 | 0.807 | 0.160 | 11 | 108354934 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2017 | |||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2011 | ||||
|
7 | 0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
4 | 0.851 | 0.080 | 15 | 90085305 | synonymous variant | G/A;C | snv | 3.5E-02; 6.4E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 1993 | 2019 | ||||
|
19 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 0.700 | 1.000 | 2 | 2016 | 2017 |