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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 7 | 30677427 | intron variant | G/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 3 | 8733391 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 15 | 32151995 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 8 | 56445416 | 3 prime UTR variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 8 | 56447926 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 20 | 3072868 | downstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 21 | 37424426 | intron variant | C/G;T | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 20 | 10273827 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.160 | 15 | 78602417 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 15784379 | intron variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 15 | 78586900 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 78577237 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 19 | 54028370 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 15 | 78597979 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 55432027 | 3 prime UTR variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 3 | 12484903 | intron variant | G/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 14 | 49421667 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |