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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.800 | 1.000 | 17 | 2008 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 16 | 2007 | 2019 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.800 | 1.000 | 12 | 2008 | 2019 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.800 | 1.000 | 12 | 2008 | 2019 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.800 | 1.000 | 12 | 2010 | 2019 | |||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.800 | 1.000 | 11 | 2008 | 2019 | ||||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.800 | 1.000 | 10 | 2010 | 2019 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.800 | 1.000 | 10 | 2008 | 2019 | |||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.800 | 1.000 | 9 | 2010 | 2019 | |||||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.800 | 1.000 | 8 | 2010 | 2019 | |||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.800 | 1.000 | 8 | 2008 | 2019 | ||||
|
6 | 1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 | 0.800 | 1.000 | 8 | 2008 | 2019 | ||||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 7 | 2009 | 2018 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 7 | 2008 | 2019 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
7 | 1.000 | 0.080 | 16 | 72074194 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
9 | 0.807 | 0.160 | 2 | 21063185 | intergenic variant | T/C | snv | 0.73 | 0.800 | 1.000 | 7 | 2009 | 2019 | ||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.800 | 1.000 | 7 | 2008 | 2019 | ||||
|
9 | 0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 7 | 2007 | 2019 | |||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
5 | 7 | 25952206 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 6 | 2013 | 2019 |