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 | 2 | 188985047 | non coding transcript exon variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 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 | |||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 8 | 144504357 | missense variant | C/A;T | snv | 8.1E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 4 | 73455883 | 3 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 64500552 | missense variant | A/C | snv | 5.4E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 4 | 73445127 | splice region variant | A/G;T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 168488807 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 1 | 15506705 | intron variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 | 0.700 | 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 | |||
|
2 | 0.925 | 0.080 | 4 | 73435958 | intron variant | C/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 4 | 94657500 | missense variant | G/A;T | snv | 8.0E-05 | 2.1E-05 | 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 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.862 | 29 | 2011 | 2019 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 1.000 | 14 | 2011 | 2018 | ||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.050 | 1.000 | 5 | 2011 | 2019 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2012 |