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 | 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 | ||||
|
1 | 11 | 69202341 | intergenic variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 15 | 56012299 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 16 | 87541726 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 17641390 | regulatory region variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 |