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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.070 | 0.571 | 7 | 2003 | 2015 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.070 | 0.571 | 7 | 2003 | 2015 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2003 | 2010 | ||||
|
3 | 0.882 | 0.120 | 22 | 20140031 | non coding transcript exon variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 8 | 20180955 | frameshift variant | T/- | del | 5.2E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.200 | 8 | 20179202 | missense variant | A/G | snv | 0.71 | 0.78 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 8 | 20144915 | 3 prime UTR variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 8 | 20179316 | missense variant | C/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 8 | 20180955 | missense variant | T/C;G | snv | 0.32 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 8 | 20164494 | intron variant | G/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 8 | 20183790 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 3 | 49531991 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
26 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 17 | 63485346 | missense variant | A/G | snv | 8.4E-05 | 1.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
11 | 0.752 | 0.360 | 10 | 52771482 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 18 | 910634 | 3 prime UTR variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 22 | 36700882 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 22 | 36701519 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 8 | 88077054 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 8 | 88081070 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 18 | 9959638 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |