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 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 7365551 | intron variant | A/G | snv | 0.87 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 13 | 75622731 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75564694 | intron variant | G/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 18 | 294495 | intergenic variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 75587903 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75598278 | intron variant | C/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75593005 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75597195 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75591146 | intron variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75598608 | intron variant | T/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75596750 | intron variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75618386 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75623795 | intron variant | C/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 11 | 41661360 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 6 | 43781426 | non coding transcript exon variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.280 | 17 | 1769982 | missense variant | C/T | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.360 | 9 | 136670698 | intron variant | A/G | snv | 0.67 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 9 | 104713014 | intergenic variant | GA/- | delins | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 |