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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 12 | 120978862 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||
|
2 | 1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
7 | 0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 11 | 17427157 | splice region variant | G/A | snv | 0.44 | 0.37 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.080 | 11 | 17387103 | missense variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1999 | 1999 | ||||
|
4 | 0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
9 | 0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 17 | 7281773 | 5 prime UTR variant | G/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 17 | 7285694 | intron variant | C/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 |