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 | 0.925 | 0.120 | 21 | 36745007 | missense variant | C/A;T | snv | 0.28; 2.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 21 | 38819714 | synonymous variant | A/G;T | snv | 0.72; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.020 | 0.500 | 2 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.120 | 21 | 45531596 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 21 | 45531476 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 3 | 9943972 | synonymous variant | C/T | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 3 | 9943989 | missense variant | T/C;G | snv | 2.6E-02; 6.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 1 | 11796244 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943773 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.070 | 0.857 | 7 | 2008 | 2013 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.050 | 0.800 | 5 | 2005 | 2013 | |||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.030 | 0.667 | 3 | 2006 | 2013 | |||
|
2 | 0.925 | 0.120 | 21 | 38824464 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 21 | 45531505 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 21 | 38822292 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 |