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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.040 | 1.000 | 4 | 2004 | 2016 | ||||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.040 | 1.000 | 4 | 2004 | 2013 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 20 | 63346204 | 3 prime UTR variant | G/A;C | snv | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 7 | 50461686 | intron variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 9 | 98542066 | intron variant | C/G;T | snv | 0.25 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 20 | 63356709 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 20 | 63359526 | non coding transcript exon variant | C/T | snv | 4.0E-06; 9.2E-02 | 9.5E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 9 | 98442880 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 9 | 98515399 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 9 | 98578034 | synonymous variant | T/C | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 5 | 111524099 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 20 | 63347748 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 11 | 27681641 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.160 | 11 | 27710436 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 7 | 50555587 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2006 | 2013 | |||
|
2 | 0.925 | 0.080 | 7 | 50482446 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 15 | 32147097 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 1 | 154576245 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 17 | 7455542 | non coding transcript exon variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 17 | 7455958 | intron variant | T/C;G | snv | 0.18 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 17 | 7447656 | splice region variant | T/C | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2006 | 2006 |