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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 13 | 102849670 | intron variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
20 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 10 | 133540621 | intron variant | T/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 20 | 33235584 | upstream gene variant | T/C;G | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 5 | 56727256 | intergenic variant | T/C;G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 7 | 55206391 | 3 prime UTR variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.060 | 0.667 | 6 | 2006 | 2018 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
8 | 0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 | 0.720 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 29972711 | upstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 30032910 | non coding transcript exon variant | T/C | snv | 5.0E-02 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
5 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2016 |