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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 44365531 | intron variant | C/T | snv | 0.94 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.040 | 12 | 91113006 | upstream gene variant | A/G | snv | 2.7E-02 | 0.030 | 0.667 | 3 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.040 | 11 | 31791253 | non coding transcript exon variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2011 | 2018 | |||||
|
3 | 0.882 | 0.040 | 11 | 31787522 | 3 prime UTR variant | C/T | snv | 0.15 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.040 | 4 | 111690594 | intergenic variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
3 | 1.000 | 0.040 | 22 | 45967859 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.040 | 2 | 144466053 | intron variant | C/T | snv | 0.21 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 232520686 | missense variant | G/A | snv | 0.72 | 0.64 | 0.710 | 1.000 | 2 | 2016 | 2016 | |||
|
6 | 0.827 | 0.040 | 15 | 34713685 | intergenic variant | T/A | snv | 0.50 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.040 | 11 | 122159482 | intron variant | A/G | snv | 0.33 | 0.020 | < 0.001 | 2 | 2011 | 2014 | ||||
|
6 | 0.827 | 0.040 | 15 | 34713872 | intergenic variant | T/C | snv | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.882 | 0.040 | 5 | 11169833 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
3 | 0.925 | 0.040 | 6 | 72933566 | intron variant | C/A | snv | 0.66 | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.040 | 13 | 23858328 | intron variant | A/G | snv | 0.55 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 8 | 59266162 | intergenic variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 59219635 | intergenic variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 44305647 | intron variant | A/G | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 102797291 | synonymous variant | C/G;T | snv | 4.0E-06; 5.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 16 | 7409346 | intron variant | T/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 18362867 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 17 | 32912627 | regulatory region variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 116125413 | missense variant | A/C;G | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 10 | 77303784 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 12 | 102387055 | non coding transcript exon variant | A/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 |