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 | 12 | 114361761 | intron variant | C/A | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 5 | 150228191 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 18 | 79454468 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 51790094 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 4 | 5783715 | missense variant | G/A;T | snv | 0.35; 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 8 | 11758471 | missense variant | C/G;T | snv | 7.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 20 | 51791897 | missense variant | G/A | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 20 | 62473507 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 17 | 81402198 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 135910326 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 135956608 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 8 | 11757012 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 5 | 51383180 | non coding transcript exon variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 8 | 11708439 | splice acceptor variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 11708800 | missense variant | C/G;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 136494732 | 3 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 135985602 | 5 prime UTR variant | C/T | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 173232508 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 79466368 | intron variant | G/A | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 5729349 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 154477792 | missense variant | C/T | snv | 4.8E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 84765153 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 173232819 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
4 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 |