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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.730 | 0.750 | 4 | 2002 | 2016 | ||||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.730 | 1.000 | 4 | 2013 | 2018 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
5 | 0.827 | 0.120 | 14 | 88022477 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 35881341 | downstream gene variant | G/A | snv | 0.20 | 0.710 | 0.500 | 2 | 2013 | 2016 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.710 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 62294109 | intergenic variant | G/T | snv | 0.76 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.710 | 0.500 | 2 | 2015 | 2016 | ||||
|
5 | 0.827 | 0.120 | 10 | 99518968 | intergenic variant | C/T | snv | 0.26 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
7 | 0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.120 | 5 | 96916885 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
17 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
5 | 0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 24978623 | intergenic variant | T/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 24259209 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 38667217 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |