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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 7 | 117548630 | intron variant | T/G | snv | 8.6E-03; 5.9E-05 | 9.0E-03 | 0.700 | 1.000 | 10 | 1992 | 2007 | |||
|
4 | 0.851 | 0.160 | 7 | 117639961 | intron variant | C/G;T | snv | 0.700 | 1.000 | 4 | 1994 | 2016 | |||||
|
2 | 0.925 | 0.160 | 7 | 117611555 | intron variant | A/G | snv | 4.2E-05 | 6.3E-05 | 0.700 | 1.000 | 4 | 1999 | 2013 | |||
|
4 | 0.851 | 0.160 | 7 | 117589467 | intron variant | A/G | snv | 2.8E-05 | 0.700 | 1.000 | 3 | 1995 | 2015 | ||||
|
6 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 117589476 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 32465964 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117589470 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117590229 | intron variant | T/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 195802247 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 195758569 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 518319 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.200 | 1 | 205930467 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.280 | 6 | 32464300 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 1757038 | intron variant | T/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 7 | 117675861 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 7 | 117602800 | intron variant | A/G | snv | 4.0E-06; 1.6E-03 | 1.1E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 11 | 34812657 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | X | 116255308 | intergenic variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | X | 116217020 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 203200743 | intergenic variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 34830213 | regulatory region variant | G/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 |