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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 9 | 79424447 | intergenic variant | A/C;G;T | snv | 0.810 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 10 | 71831773 | intron variant | G/A | snv | 3.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 99095945 | intron variant | C/T | snv | 1.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 12521826 | intergenic variant | G/A | snv | 4.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 35598334 | intergenic variant | G/T | snv | 2.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 58347679 | intergenic variant | T/C | snv | 4.3E-03 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 39086721 | synonymous variant | A/C | snv | 5.6E-03 | 2.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 20 | 7405311 | intergenic variant | T/C | snv | 4.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 39888556 | intron variant | C/T | snv | 2.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 44801500 | intron variant | T/G | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 127891771 | intergenic variant | G/A | snv | 2.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 7 | 24200546 | intron variant | G/A | snv | 1.4E-03 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 34187743 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 3 | 3573203 | intron variant | C/T | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 100757869 | intron variant | C/T | snv | 4.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 178137844 | intron variant | G/A | snv | 3.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 112563085 | intron variant | C/A | snv | 0.16 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 5 | 72400091 | regulatory region variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 173162354 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 227805859 | 5 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 227805721 | upstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 19 | 33230549 | upstream gene variant | C/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 17 | 39781794 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 |