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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 3 | 186843903 | intron variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 3 | 186853221 | missense variant | C/T | snv | 1.8E-04 | 5.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.080 | 3 | 186854295 | missense variant | A/G | snv | 6.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 6 | 32183517 | intron variant | T/C | snv | 1.7E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 1999 | 2007 | |||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.120 | 5 | 34998772 | missense variant | C/A | snv | 0.24 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 35033500 | missense variant | G/A | snv | 0.95 | 0.94 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 3 | 186620038 | intron variant | T/C | snv | 0.46 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
5 | 0.827 | 0.120 | 17 | 4636097 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 10 | 45373723 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.030 | 1.000 | 3 | 2008 | 2009 | |||
|
5 | 0.882 | 0.080 | 19 | 8364115 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1989 | 1989 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 1998 | 2000 | ||||
|
6 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 |