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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 12 | 25227308 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.120 | 15 | 45043305 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 10 | 43114596 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 43100551 | missense variant | C/A;T | snv | 2.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120129 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 10 | 43120185 | synonymous variant | C/A;G | snv | 1.6E-05; 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 18 | 75288186 | missense variant | G/A;C | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 10 | 43126769 | 3 prime UTR variant | T/C | snv | 0.79 | 0.84 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.160 | 10 | 43127485 | 3 prime UTR variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 43130238 | 3 prime UTR variant | T/C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 17027802 | missense variant | A/G | snv | 1.2E-02 | 9.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.120 | 10 | 43106382 | missense variant | G/A | snv | 6.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 10 | 43113603 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.882 | 0.120 | 10 | 43113613 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 10 | 43118397 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 10 | 43118418 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 10 | 43119694 | missense variant | C/G | snv | 1.8E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.120 | 10 | 43120114 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |