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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.770 | 1.000 | 7 | 2010 | 2014 | ||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.750 | 1.000 | 5 | 2009 | 2014 | ||||
|
7 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 0.740 | 0.750 | 4 | 2011 | 2014 | ||||
|
3 | 0.882 | 0.280 | 6 | 33093172 | intron variant | C/T | snv | 0.33 | 0.720 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.200 | 6 | 32706872 | non coding transcript exon variant | A/G | snv | 0.58 | 0.710 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 8 | 70993352 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32559302 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 6 | 32601910 | intergenic variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32450114 | intergenic variant | C/A;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32451687 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32455244 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32456603 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32377763 | intron variant | T/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32544836 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32699220 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.200 | 6 | 32412485 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 32668069 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 32693166 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267788 | frameshift variant | TGCCTACTTCTAGAACA/- | del | 0.700 | 0 |