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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.160 | 11 | 45852713 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 11 | 45858559 | intron variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 19 | 6586487 | intron variant | T/C | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 11 | 105052348 | intron variant | A/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 161192690 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.320 | 6 | 31951801 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 13 | 108259797 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.320 | 6 | 31568447 | upstream gene variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 1 | 15496566 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 89023563 | intergenic variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.240 | 6 | 31948623 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 22 | 41942148 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.320 | 6 | 32039081 | missense variant | C/A;G;T | snv | 0.64; 2.3E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 201254251 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 11 | 45869867 | intron variant | G/A | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 |