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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 16 | 2115395 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 8073738 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 14 | 23370824 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 19 | 38645846 | upstream gene variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 8 | 127995166 | non coding transcript exon variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 22 | 36160720 | stop gained | G/A | snv | 1.6E-02 | 6.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 19 | 35830918 | missense variant | G/A | snv | 4.3E-04 | 1.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.160 | 2 | 203867285 | upstream gene variant | C/T | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 |