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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 1.000 | 0.080 | 15 | 58259495 | intron variant | G/A | snv | 4.3E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 21 | 37561586 | intergenic variant | T/C | snv | 0.28 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.710 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 9 | 100689786 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 16 | 71949873 | missense variant | G/C | snv | 0.39 | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 19 | 44517149 | missense variant | G/A | snv | 0.14 | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 108988857 | intergenic variant | C/A;G | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 19033113 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 147468451 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.882 | 0.120 | 6 | 11615072 | intergenic variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 11 | 72237492 | missense variant | C/G;T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 2 | 113090051 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 5 | 122179500 | intron variant | A/G | snv | 0.18 | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1 | 112500200 | intron variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 11 | 12213613 | intron variant | G/A | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
16 | 0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |