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 | 0.882 | 0.080 | 17 | 7670682 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 1 | 25863774 | synonymous variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2006 | ||||
|
6 | 0.827 | 0.160 | 9 | 21971187 | stop gained | G/A;C | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 17 | 7674906 | stop gained | T/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.080 | 19 | 32544943 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 11 | 47237713 | splice donor variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.080 | 12 | 25149651 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.080 | 12 | 25089661 | missense variant | C/A;G | snv | 1.6E-05; 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 1 | 156937323 | missense variant | T/C | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
7 | 0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
3 | 0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 10 | 3797822 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.080 | 20 | 50082836 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |