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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.200 | 17 | 7675327 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
15 | 0.724 | 0.280 | 12 | 12717761 | 5 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.120 | 10 | 3782241 | intron variant | C/T | snv | 8.2E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 22 | 26299111 | missense variant | G/A;T | snv | 4.2E-06; 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.742 | 0.320 | 1 | 109737079 | missense variant | C/T | snv | 4.0E-06; 0.35 | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
15 | 0.732 | 0.360 | 19 | 45364096 | missense variant | C/T | snv | 2.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 8 | 18222385 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 1 | 11800254 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.080 | 17 | 7675361 | 5 prime UTR variant | A/G | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.030 | 1.000 | 3 | 2007 | 2008 | |||
|
4 | 0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 3 | 62373795 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.120 | 3 | 12424934 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 19 | 45373709 | upstream gene variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.200 | 10 | 129527035 | intron variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 8 | 47920417 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 3 | 12312494 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |