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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.882 | 0.160 | 4 | 55455650 | intron variant | C/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.827 | 0.160 | 4 | 55547636 | non coding transcript exon variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 4 | 55465165 | intron variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 4 | 55515830 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 22 | 43946294 | missense variant | G/T | snv | 7.6E-03 | 3.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 17 | 42347515 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 4 | 99583404 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 10 | 99836239 | missense variant | T/A | snv | 4.5E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.200 | 10 | 99851537 | missense variant | G/A | snv | 5.3E-02 | 8.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 4 | 168488807 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.080 | 19 | 58513279 | upstream gene variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 9218736 | intergenic variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 11 | 65582285 | missense variant | T/G | snv | 0.47 | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 12 | 3648382 | 3 prime UTR variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 |