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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
32 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 10 | 63306426 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.080 | 11 | 71523061 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 11 | 123729767 | missense variant | A/C;G;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
23 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
15 | 0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 12 | 89645549 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 104826957 | missense variant | C/G | snv | 3.3E-03 | 1.8E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 8 | 27503724 | missense variant | C/T | snv | 1.3E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 14 | 68261762 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 43979661 | regulatory region variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 |