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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 6 | 2008 | 2013 | |||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2008 | 2013 | |||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.700 | 1.000 | 4 | 2010 | 2013 | |||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 1 | 55052487 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
6 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
3 | 20 | 40462847 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
3 | 1 | 55053501 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
4 | 1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
11 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 1 | 62606594 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 20074498 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 11 | 18624296 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 75762289 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 20 | 46118465 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |