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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 22 | 2009 | 2019 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.040 | 11 | 116783719 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
1 | 11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
5 | 11 | 116786845 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
10 | 0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
3 | 11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 11 | 116780399 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
4 | 11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 11 | 116790772 | missense variant | C/T | snv | 5.0E-02 | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 11 | 116781585 | intron variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 116783443 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 116790097 | 3 prime UTR variant | G/A | snv | 0.19 | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 116779090 | intron variant | G/A | snv | 7.2E-03 | 4.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 116783370 | intron variant | A/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |