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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 | 0.800 | 1.000 | 4 | 2008 | 2011 | ||||
|
4 | 18 | 62387624 | 3 prime UTR variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2018 | |||||||
|
3 | 13 | 42377313 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 4 | 2009 | 2018 | ||||||
|
4 | 0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||
|
2 | 2 | 54457420 | intron variant | A/G | snv | 0.76 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||||
|
3 | 5 | 89080244 | intron variant | A/C | snv | 0.57 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
2 | 1.000 | 0.120 | 6 | 151747229 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||
|
2 | 8 | 118995181 | upstream gene variant | T/A | snv | 0.67 | 0.800 | 1.000 | 3 | 2009 | 2013 | ||||||
|
5 | 0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2008 | 2009 | |||||
|
3 | 1.000 | 0.080 | 6 | 151580274 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||
|
2 | 8 | 119032590 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2008 | 2009 | |||||||
|
2 | 1.000 | 0.080 | 8 | 119039999 | intron variant | T/C | snv | 0.60 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||
|
1 | 13 | 42378009 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||||
|
1 | 13 | 42458457 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||||
|
1 | 1 | 22376542 | regulatory region variant | T/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
1 | 8 | 119000461 | intron variant | C/G | snv | 0.65 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
2 | 1 | 68182033 | intron variant | T/A;C | snv | 0.35 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 1 | 22355873 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||
|
2 | 1 | 68191827 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
1 | 7 | 38096675 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2012 | |||||
|
2 | 1.000 | 0.080 | 8 | 119051303 | intron variant | T/C | snv | 0.59 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||
|
2 | 6 | 151769572 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 6 | 151689119 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||||
|
2 | 2 | 54432570 | regulatory region variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2009 | 2012 |