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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 8 | 23007068 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
16 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 8 | 9555347 | non coding transcript exon variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.882 | 0.120 | 11 | 65649963 | synonymous variant | G/A | snv | 0.31 | 0.30 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
16 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 14 | 64249595 | synonymous variant | G/C | snv | 2.8E-03 | 9.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 2 | 203934671 | upstream gene variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 21 | 34815749 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |