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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 10 | 2008 | 2013 | ||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 10 | 2008 | 2013 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 6 | 2008 | 2013 | |||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 6 | 2008 | 2013 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 5 | 2009 | 2013 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.700 | 1.000 | 5 | 2008 | 2012 | ||||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.700 | 1.000 | 5 | 2010 | 2013 | ||||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.700 | 1.000 | 5 | 2008 | 2012 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2008 | 2013 | |||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 5 | 2008 | 2012 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
7 | 1.000 | 0.080 | 16 | 72074194 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.700 | 1.000 | 4 | 2010 | 2013 | |||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
5 | 1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.700 | 1.000 | 3 | 2009 | 2013 |