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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 21 | 35301275 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 20 | 56370727 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.120 | 14 | 20456008 | missense variant | G/C | snv | 2.1E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 8 | 89955478 | missense variant | G/A;C;T | snv | 4.0E-06; 6.4E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 20 | 5119682 | missense variant | G/A;T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 76397814 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 10 | 91827975 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 27291329 | missense variant | A/G | snv | 0.27 | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.160 | 5 | 82011593 | intron variant | C/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 54886696 | intergenic variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 5 | 163490702 | intron variant | G/A | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 15 | 78897790 | 3 prime UTR variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 15 | 90931006 | 5 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.080 | 9 | 4860643 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.160 | 13 | 42607866 | 3 prime UTR variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 19 | 10292262 | missense variant | G/A | snv | 0.39 | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 20 | 53567166 | 3 prime UTR variant | C/A;T | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 8 | 6621521 | missense variant | C/A;G;T | snv | 4.0E-06; 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 |