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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.830 | 1.000 | 6 | 2010 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.820 | 0.750 | 4 | 2010 | 2016 | |||
|
1 | 2 | 21166787 | intergenic variant | T/G | snv | 0.37 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 8 | 20019235 | intergenic variant | G/C | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.730 | 1.000 | 4 | 2010 | 2017 | ||||
|
11 | 0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183040142 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183083398 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
20 | 0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 11 | 116760991 | intron variant | T/A;C | snv | 0.89 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183193404 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.882 | 0.080 | 8 | 125467120 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 8 | 20071071 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 18 | 23299253 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.080 | 1.000 | 8 | 2003 | 2018 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.060 | 0.667 | 6 | 1995 | 2000 | |||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.050 | 1.000 | 5 | 2007 | 2012 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.040 | 0.750 | 4 | 1984 | 2004 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.040 | 0.750 | 4 | 1993 | 2004 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.030 | 1.000 | 3 | 1998 | 2020 | ||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.030 | 1.000 | 3 | 2002 | 2007 |