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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 178764802 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 221482561 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 15 | 74619987 | missense variant | G/A;T | snv | 0.11 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 6 | 158947492 | intergenic variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 15 | 32834253 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 35375956 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 20751084 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 |