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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 13563041 | synonymous variant | A/G | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.160 | 6 | 36765293 | intron variant | A/C;G | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.030 | 0.667 | 3 | 2005 | 2011 | |||
|
1 | 1.000 | 0.080 | 11 | 113975355 | synonymous variant | C/T | snv | 8.2E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 113932382 | synonymous variant | G/A;C;T | snv | 7.7E-02; 2.8E-03; 5.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 5 | 1443084 | missense variant | G/A;C | snv | 5.6E-02; 6.8E-05 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 13866194 | synonymous variant | C/T | snv | 4.9E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
9 | 0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.080 | 11 | 18705901 | missense variant | T/C | snv | 3.5E-02 | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.040 | 1.000 | 4 | 2001 | 2008 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.030 | 0.667 | 3 | 1996 | 1998 | |||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.900 | 1.000 | 11 | 2005 | 2019 | |||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
2 | 1.000 | 0.080 | 4 | 102616617 | 3 prime UTR variant | G/A;T | snv | 5.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 0.020 | 1.000 | 2 | 2005 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 38396880 | stop gained | C/T | snv | 1.0E-03; 4.0E-06 | 1.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 8 | 42732292 | missense variant | C/T | snv | 3.6E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 7 | 128254587 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |